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Panel Panel Additional findings health related Additional findings health related - adults Additional findings health related - adult specific Additional findings health related - children Additional findings health related - CNV analysis adults Additional findings health related - CNV analysis adult specific Additional findings health related - CNV analysis children Additional findings reproductive carrier status Adult onset movement disorder Adult solid tumours cancer susceptibility Adult solid tumours for rare disease Albinism or congenital nystagmus Amelogenesis imperfecta Amyloidosis Amyotrophic lateral sclerosis/motor neuron disease Aniridia Anophthalmia or microphthalmia API_SignedOffVersion_L4 Arrhythmogenic cardiomyopathy Arthrogryposis Ataxia and cerebellar anomalies - narrow panel Atypical haemolytic uraemic syndrome Auditory Neuropathy Spectrum Disorder Autism Autosomal recessive congenital ichthyosis Autosomal recessive primary hypertrophic osteoarthropathy Bardet Biedl syndrome Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Bladder cancer pertinent cancer susceptibility Bleeding and platelet disorders Brain cancer pertinent cancer susceptibility Brain channelopathy Breast cancer pertinent cancer susceptibility Brugada syndrome CAKUT Cardiac arrhythmias Cardiac arrhythmias - additional genes Cardiomyopathies - including childhood onset Cataracts Catecholaminergic polymorphic VT Cerebellar hypoplasia Cerebral folate deficiency Cerebral malformations Cerebral vascular malformations CHARGE syndrome Childhood onset dystonia or chorea or related movement disorder Childhood solid tumours cancer susceptibility Choanal atresia Cholestasis Chondrodysplasia punctata Classical tuberous sclerosis Clefting ClinGen_Familial thoracic aortic aneurysm and aortic dissection ClinGen Gene Validity Curations Colorectal cancer pertinent cancer susceptibility Combined factor V and VIII deficiency Common craniosynostosis syndromes Confirmed Fanconi anaemia or Bloom syndrome Congenital adrenal hypoplasia Congenital disorders of glycosylation Congenital fibrosis of the extraocular muscles Congenital hyperinsulinism Congenital hypothyroidism Congenital muscular dystrophy Congenital myaesthenic syndrome Congenital myopathy Corneal abnormalities Corneal dystrophies COVID-19 research Craniosynostosis CuratorFeaturePanel2_L4 CuratorFeaturePanel3_L4 CuratorFeaturePanel4_L4 CuratorFeaturePanel5_L4 CuratorFeaturePanel6_L4 Currarino triad Cutaneous photosensitivity with a likely genetic cause Cystic kidney disease Cystic renal disease Cytopenia - NOT Fanconi anaemia Cytopenias and congenital anaemias DDG2P Deafness and congenital structural abnormalities Diabetes - neonatal onset Diabetes with additional phenotypes suggestive of a monogenic aetiology Dilated cardiomyopathy - adult and teen Dilated Cardiomyopathy and conduction defects Disorders of sex development Distal myopathies Ductal plate malformation Early onset dementia (encompassing fronto-temporal dementia and prion disease) Early onset dystonia Ectodermal dysplasia Ectodermal dysplasia without a known gene mutation Ehlers Danlos syndromes Endocrine neoplasms Endometrial cancer pertinent cancer susceptibility Epidermodysplasia verruciformis Epidermolysis bullosa Epidermolysis bullosa and congenital skin fragility Erythropoietic protoporphyria, mild variant Extreme early-onset hypertension Familial breast cancer Familial cerebral small vessel disease Familial cicatricial alopecia Familial diabetes Familial disseminated superficial actinic porokeratosis Familial dysautonomia Familial hidradenitis suppurativa Familial Hirschsprung Disease Familial hypercholesterolaemia Familial hypercholesterolaemia - targeted panel Familial hyperparathyroidism Familial hypoparathyroidism Familial melanoma Familial Meniere Disease Familial Neural Tube Defects Familial non syndromic congenital heart disease Familial prostate cancer Familial pulmonary fibrosis Familial rhabdomyosarcoma Familial tumoral calcinosis Familial Tumours Syndromes of the central & peripheral Nervous system Fetal anomalies Fetal hydrops Gastrointestinal epithelial barrier disorders Gastrointestinal neuromuscular disorders Generalised pustular psoriasis Gene therapy clinical trials Genetic epilepsy syndromes Genodermatoses with malignancies Genomic imprinting GI tract tumours Glaucoma (developmental) Glycogen storage disease Groopman et al 2019 - Genes with diagnostic variants Growth failure in early childhood Growth failure in early childhood TEST Haematological malignancies cancer susceptibility Haematological malignancies for rare disease Haematuria Head and neck cancer pertinent cancer susceptibility Hearing loss Hereditary ataxia Hereditary ataxia - adult onset Hereditary ataxia and cerebellar anomalies - childhood onset Hereditary Erythrocytosis Hereditary haemorrhagic telangiectasia Hereditary neuropathy Hereditary neuropathy NOT PMP22 copy number Hereditary spastic paraplegia Hereditary spastic paraplegia - adult onset Hereditary spastic paraplegia - childhood onset Holoprosencephaly Hydroa vacciniforme Hydrocephalus Hyperammonaemia Hyperthyroidism Hypertrophic cardiomyopathy - teen and adult Hypocalciuric hypercalcaemia Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism idiopathic Hypophosphataemia or rickets Hypotonic infant Ichthyosis and erythrokeratoderma Idiopathic ventricular fibrillation Inborn errors of metabolism Infantile enterocolitis & monogenic inflammatory bowel disease Infantile nystagmus Inherited bleeding disorders Inherited MMR deficiency (Lynch syndrome) Inherited non-medullary thyroid cancer Inherited ovarian cancer (without breast cancer) Inherited pancreatic cancer Inherited phaeochromocytoma and paraganglioma Inherited phaeochromocytoma and paraganglioma excluding NF1 Inherited polyposis Inherited predisposition to acute myeloid leukaemia (AML) Inherited predisposition to GIST Inherited renal cancer Inherited white matter disorders Insulin resistance (including lipodystrophy) Intellectual disability Intestinal failure Intracerebral calcification disorders Iron metabolism disorders IUGR and IGF abnormalities Juvenile dermatomyositis Kabuki syndrome Ketotic hypoglycaemia Kleine-Levin syndrome Laterality disorders and isomerism Leber hereditary optic neuropathy Left Ventricular Noncompaction Cardiomyopathy Limb disorders Limb girdle muscular dystrophy Lipodystrophy - childhood onset Lipoprotein lipase deficiency Long QT syndrome Lung cancer pertinent cancer susceptibility Lysosomal storage disorder Malformations of cortical development Melanoma pertinent cancer susceptibility Membranoproliferative glomerulonephritis Mitochondrial disorders Mitochondrial disorder with complex I deficiency Mitochondrial disorder with complex II deficiency Mitochondrial disorder with complex III deficiency Mitochondrial disorder with complex IV deficiency Mitochondrial disorder with complex V deficiency Mitochondrial DNA maintenance disorder Mitochondrial liver disease Monogenic diabetes Monogenic nephrogenic diabetes insipidus Mosaic skin disorders - deep sequencing Mucopolysaccharideosis, Gaucher, Fabry Multi-organ autoimmune diabetes Multiple endocrine tumours Multiple Epiphyseal Dysplasia Multiple lipomas Multiple monogenic benign skin tumours Neonatal cholestasis Nephrocalcinosis or nephrolithiasis Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS Neurodegenerative disorders - adult onset Neuroendocrine cancer pertinent cancer susceptibility Neurofibromatosis Type 1 Neurological ciliopathies Neurological segmental overgrowth Neuromuscular disorders Neuronal ceroid lipofuscinosis Neurotransmitter disorders NewbornFullV1 Non-acute porphyrias Non-CF bronchiectasis Non-syndromic familial congenital anorectal malformations Non-syndromic hypotrichosis Ocular and oculo-cutaneous albinism Ocular coloboma Ophthalmological ciliopathies Optic neuropathy Osteogenesis imperfecta Osteopetrosis Ovarian cancer pertinent cancer susceptibility Paediatric disorders Paediatric disorders - additional genes Paediatric motor neuronopathies Pain syndromes Palmoplantar keratoderma and erythrokeratodermas Palmoplantar keratodermas Pancreatitis Panel544_545 PanelForEditSTR PanelForPublicUser PanelForReviewer PanelViaWebServices1 PanelViaWebServices4 Parathyroid Cancer Parkinson Disease and Complex Parkinsonism Paroxysmal central nervous system disorders Peeling skin syndrome Periodic fever syndromes Peroxisomal disorders PHACE(S) syndrome Pigmentary skin disorders Pituitary hormone deficiency Pityriasis rubra pilaris Pneumothorax - familial Polycystic liver disease interim Possible mitochondrial disorder - nuclear genes PPanel_SignedOffVersion_L4 Primary ciliary disorders Primary immunodeficiency Primary lymphoedema Primary ovarian insufficiency Primary pigmented nodular adrenocortical disease Progressive cardiac conduction disease Prostate cancer pertinent cancer susceptibility Proteinuric renal disease Pulmonary arterial hypertension Pyruvate dehydrogenase (PDH) deficiency Radial dysplasia Rare anaemia Rare genetic inflammatory skin disorders Rare multisystem ciliopathy disorders Rare multisystem ciliopathy Super panel RASopathies Refuted genes Renal cancer pertinent cancer susceptibility Renal ciliopathies Renal superpanel - broad Renal superpanel - narrow Renal tubulopathies Respiratory ciliopathies including non-CF bronchiectasis Retinal disorders Rhabdoid tumour predisposition Rhabdomyolysis and metabolic muscle disorders RPanel_SignedOffVersion_L4 Sarcoma cancer susceptibility Sarcoma susceptibility Segmental overgrowth disorders Severe early-onset obesity Severe familial anorexia Severe hypertriglyceridaemia Severe microcephaly Severe multi-system atopic disease with high IgE Severe Paediatric Disorders Short QT syndrome Silver Russell syndrome Skeletal ciliopathies Skeletal dysplasia Skeletal Muscle Channelopathies Skeletal muscle channelopathy Stickler syndrome Structural basal ganglia disorders Structural eye disease Sudden cardiac death Sudden death in young people Superpanel_TEST Surfactant deficiency Testicular cancer pertinent cancer susceptibility Test MOI validation panel - do not edit TEST_OCT_2020_1 TestPanel TestPanelApril2021 Thoracic aortic aneurysm and dissection Thoracic aortic aneurysm or dissection Thoracic dystrophies Thrombocythaemia Thrombophilia Thyroid cancer pertinent cancer susceptibility Tubulointerstitial kidney disease Tumour predisposition - childhood onset Ultra-rare undescribed monogenic disorders Undiagnosed metabolic disorders Undiagnosed monogenic disorder seen in a specialist genetics clinic Unexplained kidney failure in young people Unexplained paediatric onset end-stage renal disease Upper gastrointestinal cancer pertinent cancer susceptibility VACTERL-like phenotypes Vascular skin disorders Vici Syndrome and other autophagy disorders Viral resistance White matter disorders - adult onset White matter disorders and cerebral calcification - narrow panel White matter disorders - childhood onset Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

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16 Dec 2021	Neuromuscular disorders v5.177		Arina Puzriakova Panel version 5.172 has been signed off on 2021-12-16
16 Dec 2021	Hypertrophic cardiomyopathy - teen and adult v2.19		Arina Puzriakova Panel version 2.18 has been signed off on 2021-12-16
16 Dec 2021	Mitochondrial disorders v2.24		Arina Puzriakova Panel version 2.23 has been signed off on 2021-12-16
16 Dec 2021	Paediatric motor neuronopathies v1.64		Arina Puzriakova Panel version 1.63 has been signed off on 2021-12-16
16 Dec 2021	Inborn errors of metabolism v2.105		Arina Puzriakova Panel version 2.104 has been signed off on 2021-12-16
16 Dec 2021	Skeletal muscle channelopathy v1.24		Arina Puzriakova Panel version 1.23 has been signed off on 2021-12-16
16 Dec 2021	Childhood onset dystonia or chorea or related movement disorder v1.87		Arina Puzriakova Panel version 1.86 has been signed off on 2021-12-16
16 Dec 2021	Intellectual disability v3.1002		Arina Puzriakova Panel version 3.1001 has been signed off on 2021-12-16
16 Dec 2021	Skeletal dysplasia v2.85		Arina Puzriakova Panel version 2.84 has been signed off on 2021-12-16
16 Dec 2021	Hereditary spastic paraplegia - adult onset v1.26		Arina Puzriakova Panel version 1.25 has been signed off on 2021-12-16
16 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.37		Arina Puzriakova Panel version 2.36 has been signed off on 2021-12-16
16 Dec 2021	Adult onset movement disorder v1.82		Arina Puzriakova Panel version 1.81 has been signed off on 2021-12-16
16 Dec 2021	Genetic epilepsy syndromes v2.312		Arina Puzriakova Panel version 2.311 has been signed off on 2021-12-16
16 Dec 2021	Paroxysmal central nervous system disorders v1.15		Arina Puzriakova Panel version 1.14 has been signed off on 2021-12-16
16 Dec 2021	Hereditary ataxia - adult onset v2.36		Arina Puzriakova Panel version 2.35 has been signed off on 2021-12-16
16 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.65		Arina Puzriakova Panel version 2.64 has been signed off on 2021-12-16
16 Dec 2021	Hereditary neuropathy NOT PMP22 copy number v1.28		Arina Puzriakova Panel version 1.27 has been signed off on 2021-12-16
16 Dec 2021	Neurodegenerative disorders - adult onset v2.57		Arina Puzriakova Panel version 2.56 has been signed off on 2021-12-16
16 Dec 2021	Congenital myopathy v2.33		Arina Puzriakova Panel version 2.32 has been signed off on 2021-12-16
16 Dec 2021	Congenital muscular dystrophy v2.9		Arina Puzriakova Panel version 2.8 has been signed off on 2021-12-16
16 Dec 2021	Distal myopathies v1.33		Arina Puzriakova Panel version 1.32 has been signed off on 2021-12-16
15 Dec 2021	Adult onset movement disorder v1.81	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
15 Dec 2021	Hereditary ataxia - adult onset v2.35	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
15 Dec 2021	Neurodegenerative disorders - adult onset v2.56	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
15 Dec 2021	Hereditary spastic paraplegia - adult onset v1.25	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
15 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.36	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
15 Dec 2021	Hereditary spastic paraplegia v1.235	HTT_CAG	Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
15 Dec 2021	Hereditary spastic paraplegia v1.235	HTT_CAG	Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary spastic paraplegia v1.234	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source Expert Review was removed from STR: HTT_CAG. Source Expert list was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Structural basal ganglia disorders v1.19	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
15 Dec 2021	Hereditary ataxia v1.232	HTT_CAG	Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.232	HTT_CAG	Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.231	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source Expert Review was removed from STR: HTT_CAG. Source Expert list was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.64	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
15 Dec 2021	Brain channelopathy v1.66	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.62	HTT_CAG	Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.62	HTT_CAG	Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.61	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source Expert Review was removed from STR: HTT_CAG. Source Expert list was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.85	HTT_CAG	Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.85	HTT_CAG	Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.84	HTT_CAG	Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Intellectual disability v3.1001	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
15 Dec 2021	Adult onset movement disorder v1.80	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
15 Dec 2021	Hereditary ataxia - adult onset v2.34	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
15 Dec 2021	Hereditary neuropathy v1.394	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
15 Dec 2021	Neurodegenerative disorders - adult onset v2.55	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
15 Dec 2021	Hereditary spastic paraplegia - adult onset v1.24	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
15 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.35	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
15 Dec 2021	Hereditary spastic paraplegia v1.233	PPP2R2B_CAG	Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
15 Dec 2021	Hereditary spastic paraplegia v1.233	PPP2R2B_CAG	Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary spastic paraplegia v1.232	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43. Source Expert Review was removed from STR: PPP2R2B_CAG. Source Expert list was added to STR: PPP2R2B_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Hereditary ataxia v1.230	PPP2R2B_CAG	Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.230	PPP2R2B_CAG	Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.229	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.63	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.83	PPP2R2B_CAG	Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.83	PPP2R2B_CAG	Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.82	PPP2R2B_CAG	Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43. Source Expert Review was removed from STR: PPP2R2B_CAG. Source Expert list was added to STR: PPP2R2B_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Adult onset movement disorder v1.79	JPH3_CTG	Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
15 Dec 2021	Neurodegenerative disorders - adult onset v2.54	JPH3_CTG	Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
15 Dec 2021	Early onset dystonia v1.93	JPH3_CTG	Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
15 Dec 2021	Early onset dystonia v1.93	JPH3_CTG	Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dystonia v1.92	JPH3_CTG	Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40. Source Expert Review was removed from STR: JPH3_CTG. Source Expert list was added to STR: JPH3_CTG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.60	JPH3_CTG	Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.60	JPH3_CTG	Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.59	JPH3_CTG	Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.81	JPH3_CTG	Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.81	JPH3_CTG	Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.80	JPH3_CTG	Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Intellectual disability v3.1000	DMPK_CTG	Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
15 Dec 2021	Intellectual disability v3.1000	DMPK_CTG	Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Mitochondrial disorders v2.23	DMPK_CTG	Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
15 Dec 2021	Mitochondrial disorders v2.23	DMPK_CTG	Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Mitochondrial disorders v2.22	DMPK_CTG	Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
15 Dec 2021	Mitochondrial disorders v2.22	DMPK_CTG	Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Intellectual disability v3.999	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Mitochondrial disorders v2.21	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Source Expert Review was removed from STR: DMPK_CTG. Source Expert list was added to STR: DMPK_CTG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Paediatric motor neuronopathies v1.63	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
15 Dec 2021	Inborn errors of metabolism v2.104	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
15 Dec 2021	Skeletal muscle channelopathy v1.23	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
15 Dec 2021	Congenital myopathy v2.32	DMPK_CTG	Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
15 Dec 2021	Congenital myopathy v2.32	DMPK_CTG	Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Congenital myopathy v2.31	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Congenital muscular dystrophy v2.8	DMPK_CTG	Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
15 Dec 2021	Congenital muscular dystrophy v2.8	DMPK_CTG	Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Congenital muscular dystrophy v2.7	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Source Expert Review was removed from STR: DMPK_CTG. Source Expert list was added to STR: DMPK_CTG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Paroxysmal central nervous system disorders v1.14	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
15 Dec 2021	Gastrointestinal neuromuscular disorders v1.13	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
15 Dec 2021	Fetal hydrops v1.26	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
15 Dec 2021	Skeletal Muscle Channelopathies v1.30	DMPK_CTG	Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
15 Dec 2021	Skeletal Muscle Channelopathies v1.30	DMPK_CTG	Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
15 Dec 2021	Skeletal Muscle Channelopathies v1.29	DMPK_CTG	Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Childhood onset dystonia or chorea or related movement disorder v1.86	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
15 Dec 2021	Intellectual disability v3.998	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
15 Dec 2021	Adult onset movement disorder v1.78	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
15 Dec 2021	Hereditary ataxia - adult onset v2.33	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
15 Dec 2021	Genetic epilepsy syndromes v2.311	CSTB_CCCCGCCCCGCG	Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
15 Dec 2021	Genetic epilepsy syndromes v2.311	CSTB_CCCCGCCCCGCG	Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
15 Dec 2021	Genetic epilepsy syndromes v2.310	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. Source Expert list was removed from STR: CSTB_CCCCGCCCCGCG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Neurodegenerative disorders - adult onset v2.53	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
15 Dec 2021	Paroxysmal central nervous system disorders v1.13	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
15 Dec 2021	Hereditary ataxia v1.228	CSTB_CCCCGCCCCGCG	Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.228	CSTB_CCCCGCCCCGCG	Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.227	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. Source Expert Review was removed from STR: CSTB_CCCCGCCCCGCG. Source Expert list was added to STR: CSTB_CCCCGCCCCGCG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.62	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
15 Dec 2021	Brain channelopathy v1.65	CSTB_CCCCGCCCCGCG	Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
15 Dec 2021	Brain channelopathy v1.65	CSTB_CCCCGCCCCGCG	Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
15 Dec 2021	Brain channelopathy v1.64	CSTB_CCCCGCCCCGCG	Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18. Source Expert Review was removed from STR: CSTB_CCCCGCCCCGCG. Source Expert list was added to STR: CSTB_CCCCGCCCCGCG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Skeletal muscle channelopathy v1.22	CNBP_CCTG	Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
15 Dec 2021	Distal myopathies v1.32	CNBP_CCTG	Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
15 Dec 2021	Skeletal Muscle Channelopathies v1.28	CNBP_CCTG	Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
15 Dec 2021	Adult onset movement disorder v1.77	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
15 Dec 2021	Hereditary ataxia - adult onset v2.32	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
15 Dec 2021	Neurodegenerative disorders - adult onset v2.52	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
15 Dec 2021	Hereditary spastic paraplegia - adult onset v1.23	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
15 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.34	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
15 Dec 2021	Hereditary spastic paraplegia v1.231	CACNA1A_CAG	Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
15 Dec 2021	Hereditary spastic paraplegia v1.231	CACNA1A_CAG	Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary spastic paraplegia v1.230	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19. Source Expert Review was removed from STR: CACNA1A_CAG. Source Expert list was added to STR: CACNA1A_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Paroxysmal central nervous system disorders v1.12	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
15 Dec 2021	Hereditary ataxia v1.226	CACNA1A_CAG	Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.226	CACNA1A_CAG	Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.225	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.61	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
15 Dec 2021	Brain channelopathy v1.63	CACNA1A_CAG	Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
15 Dec 2021	Brain channelopathy v1.63	CACNA1A_CAG	Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
15 Dec 2021	Brain channelopathy v1.62	CACNA1A_CAG	Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19. Source Expert Review was removed from STR: CACNA1A_CAG. Source Expert list was added to STR: CACNA1A_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Intellectual disability v3.997	C9orf72_GGGGCC	Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
15 Dec 2021	Adult onset movement disorder v1.76	C9orf72_GGGGCC	Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
15 Dec 2021	Amyotrophic lateral sclerosis/motor neuron disease v1.34	C9orf72_GGGGCC	Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
15 Dec 2021	Amyotrophic lateral sclerosis/motor neuron disease v1.34	C9orf72_GGGGCC	Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
15 Dec 2021	Amyotrophic lateral sclerosis/motor neuron disease v1.33	C9orf72_GGGGCC	Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Neurodegenerative disorders - adult onset v2.51	C9orf72_GGGGCC	Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.58	C9orf72_GGGGCC	Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.58	C9orf72_GGGGCC	Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.57	C9orf72_GGGGCC	Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.79	C9orf72_GGGGCC	Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.79	C9orf72_GGGGCC	Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.78	C9orf72_GGGGCC	Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Intellectual disability v3.996	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
15 Dec 2021	Hereditary ataxia - adult onset v2.31	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
15 Dec 2021	Hereditary neuropathy v1.393	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
15 Dec 2021	Undiagnosed metabolic disorders v1.450	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
15 Dec 2021	Neurodegenerative disorders - adult onset v2.50	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
15 Dec 2021	Hereditary spastic paraplegia - adult onset v1.22	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
15 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.33	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
15 Dec 2021	Hereditary spastic paraplegia v1.229	ATXN7_CAG	Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
15 Dec 2021	Hereditary spastic paraplegia v1.229	ATXN7_CAG	Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary spastic paraplegia v1.228	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37. Source Expert Review was removed from STR: ATXN7_CAG. Source Expert list was added to STR: ATXN7_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Hereditary ataxia v1.224	ATXN7_CAG	Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.224	ATXN7_CAG	Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.223	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.60	ATXN7_CAG	Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
15 Dec 2021	Intellectual disability v3.995	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
15 Dec 2021	Adult onset movement disorder v1.75	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary ataxia - adult onset v2.30	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary neuropathy v1.392	ATXN3_CAG	Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
15 Dec 2021	Hereditary neuropathy v1.392	ATXN3_CAG	Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary neuropathy v1.391	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. Source Expert Review was removed from STR: ATXN3_CAG. Source Expert list was added to STR: ATXN3_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Neurodegenerative disorders - adult onset v2.49	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary spastic paraplegia - adult onset v1.21	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.32	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary spastic paraplegia v1.227	ATXN3_CAG	Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
15 Dec 2021	Hereditary spastic paraplegia v1.227	ATXN3_CAG	Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary spastic paraplegia v1.226	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. Source Expert Review was removed from STR: ATXN3_CAG. Source Expert list was added to STR: ATXN3_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Hereditary ataxia v1.222	ATXN3_CAG	Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.222	ATXN3_CAG	Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.221	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.59	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
15 Dec 2021	Early onset dystonia v1.91	ATXN3_CAG	Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
15 Dec 2021	Early onset dystonia v1.91	ATXN3_CAG	Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dystonia v1.90	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. Source Expert Review was removed from STR: ATXN3_CAG. Source Expert list was added to STR: ATXN3_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.77	ATXN3_CAG	Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.77	ATXN3_CAG	Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.76	ATXN3_CAG	Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Childhood onset dystonia or chorea or related movement disorder v1.85	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Intellectual disability v3.994	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Adult onset movement disorder v1.74	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Hereditary ataxia - adult onset v2.29	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Hereditary neuropathy v1.390	ATXN2_CAG	Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
15 Dec 2021	Hereditary neuropathy v1.390	ATXN2_CAG	Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary neuropathy v1.389	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source Expert Review was removed from STR: ATXN2_CAG. Source Expert list was added to STR: ATXN2_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Amyotrophic lateral sclerosis/motor neuron disease v1.32	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Neurodegenerative disorders - adult onset v2.48	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Hereditary spastic paraplegia - adult onset v1.20	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.31	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Hereditary spastic paraplegia v1.225	ATXN2_CAG	Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
15 Dec 2021	Hereditary spastic paraplegia v1.225	ATXN2_CAG	Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary spastic paraplegia v1.224	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source Expert Review was removed from STR: ATXN2_CAG. Source Expert list was added to STR: ATXN2_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Hereditary ataxia v1.220	ATXN2_CAG	Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.220	ATXN2_CAG	Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.219	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.58	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
15 Dec 2021	Early onset dystonia v1.89	ATXN2_CAG	Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
15 Dec 2021	Early onset dystonia v1.89	ATXN2_CAG	Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dystonia v1.88	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source Expert Review was removed from STR: ATXN2_CAG. Source Expert list was added to STR: ATXN2_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.56	ATXN2_CAG	Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.56	ATXN2_CAG	Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.55	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Rating Changed from Green List (high evidence) to No List (delete)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.75	ATXN2_CAG	Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.75	ATXN2_CAG	Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.74	ATXN2_CAG	Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Adult onset movement disorder v1.73	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
15 Dec 2021	Intellectual disability v3.993	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary ataxia - adult onset v2.28	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary neuropathy v1.388	ATXN1_CAG	Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
15 Dec 2021	Hereditary neuropathy v1.388	ATXN1_CAG	Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary neuropathy v1.387	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source Expert Review was removed from STR: ATXN1_CAG. Source Expert list was added to STR: ATXN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Neurodegenerative disorders - adult onset v2.47	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary spastic paraplegia - adult onset v1.19	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.30	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
15 Dec 2021	Hereditary spastic paraplegia v1.223	ATXN1_CAG	Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
15 Dec 2021	Hereditary spastic paraplegia v1.223	ATXN1_CAG	Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary spastic paraplegia v1.222	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source Expert Review was removed from STR: ATXN1_CAG. Source Expert list was added to STR: ATXN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Hereditary ataxia v1.218	ATXN1_CAG	Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.218	ATXN1_CAG	Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.217	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.57	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.54	ATXN1_CAG	Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.54	ATXN1_CAG	Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.53	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source Expert Review was removed from STR: ATXN1_CAG. Source Expert list was added to STR: ATXN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.73	ATXN1_CAG	Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.73	ATXN1_CAG	Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.72	ATXN1_CAG	Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source Expert Review was removed from STR: ATXN1_CAG. Source Expert list was added to STR: ATXN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Hereditary ataxia - adult onset v2.27	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
15 Dec 2021	Intellectual disability v3.992	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
15 Dec 2021	Hereditary neuropathy v1.386	ATXN10_ATTCT	Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
15 Dec 2021	Hereditary neuropathy v1.386	ATXN10_ATTCT	Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary neuropathy v1.385	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source Expert Review was removed from STR: ATXN10_ATTCT. Source Expert list was added to STR: ATXN10_ATTCT. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Neurodegenerative disorders - adult onset v2.46	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
15 Dec 2021	Hereditary spastic paraplegia - adult onset v1.18	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
15 Dec 2021	Skeletal dysplasia v2.84	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
15 Dec 2021	Hereditary spastic paraplegia - childhood onset v2.29	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
15 Dec 2021	Hereditary spastic paraplegia v1.221	ATXN10_ATTCT	Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
15 Dec 2021	Hereditary spastic paraplegia v1.221	ATXN10_ATTCT	Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary spastic paraplegia v1.220	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source Expert Review was removed from STR: ATXN10_ATTCT. Source Expert list was added to STR: ATXN10_ATTCT. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Hereditary ataxia v1.216	ATXN10_ATTCT	Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.216	ATXN10_ATTCT	Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.215	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Thoracic dystrophies v1.13	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.56	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
15 Dec 2021	Early onset dystonia v1.87	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source Expert Review was removed from STR: ATXN10_ATTCT.
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.52	ATXN10_ATTCT	Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.52	ATXN10_ATTCT	Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.51	ATXN10_ATTCT	Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source Expert Review was removed from STR: ATXN10_ATTCT. Source Expert list was added to STR: ATXN10_ATTCT. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Adult onset movement disorder v1.72	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
15 Dec 2021	Hereditary ataxia - adult onset v2.26	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
15 Dec 2021	Genetic epilepsy syndromes v2.309	ATN1_CAG	Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
15 Dec 2021	Genetic epilepsy syndromes v2.309	ATN1_CAG	Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Genetic epilepsy syndromes v2.308	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Source Expert Review was removed from STR: ATN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Neurodegenerative disorders - adult onset v2.45	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
15 Dec 2021	Paroxysmal central nervous system disorders v1.11	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
15 Dec 2021	Hereditary ataxia v1.214	ATN1_CAG	Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
15 Dec 2021	Hereditary ataxia v1.214	ATN1_CAG	Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Hereditary ataxia v1.213	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Ataxia and cerebellar anomalies - narrow panel v2.55	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
15 Dec 2021	Brain channelopathy v1.61	ATN1_CAG	Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
15 Dec 2021	Brain channelopathy v1.61	ATN1_CAG	Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Brain channelopathy v1.60	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.50	ATN1_CAG	Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.50	ATN1_CAG	Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.49	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.71	ATN1_CAG	Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.71	ATN1_CAG	Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
15 Dec 2021	Parkinson Disease and Complex Parkinsonism v1.70	ATN1_CAG	Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Source Expert Review was removed from STR: ATN1_CAG. Source Expert list was added to STR: ATN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Hereditary neuropathy NOT PMP22 copy number v1.27	AR_CAG	Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
15 Dec 2021	Hereditary neuropathy v1.384	AR_CAG	Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
15 Dec 2021	Amyotrophic lateral sclerosis/motor neuron disease v1.31	AR_CAG	Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
15 Dec 2021	Amyotrophic lateral sclerosis/motor neuron disease v1.31	AR_CAG	Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
15 Dec 2021	Amyotrophic lateral sclerosis/motor neuron disease v1.30	AR_CAG	Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35. Rating Changed from Green List (high evidence) to Red List (low evidence)
15 Dec 2021	Neurodegenerative disorders - adult onset v2.44	AR_CAG	Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
15 Dec 2021	Congenital myopathy v2.30	AR_CAG	Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
15 Dec 2021	Congenital myopathy v2.30	AR_CAG	Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
15 Dec 2021	Congenital myopathy v2.29	AR_CAG	Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35. Rating Changed from Green List (high evidence) to No List (delete)
15 Dec 2021	Distal myopathies v1.31	AR_CAG	Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
15 Dec 2021	Distal myopathies v1.31	AR_CAG	Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
15 Dec 2021	Distal myopathies v1.30	AR_CAG	Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35. Rating Changed from Green List (high evidence) to No List (delete)
11 Nov 2021	NewbornFullV1 v0.1	IRS4	Ivone Leong gene: IRS4 was added gene: IRS4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	TBL1X	Ivone Leong gene: TBL1X was added gene: TBL1X was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	IGSF1	Ivone Leong gene: IGSF1 was added gene: IGSF1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	AVPR2	Ivone Leong gene: AVPR2 was added gene: AVPR2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	MAGED2	Ivone Leong gene: MAGED2 was added gene: MAGED2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	PRPS1	Ivone Leong gene: PRPS1 was added gene: PRPS1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	COL4A5	Ivone Leong gene: COL4A5 was added gene: COL4A5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	BTK	Ivone Leong gene: BTK was added gene: BTK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	MAGT1	Ivone Leong gene: MAGT1 was added gene: MAGT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	TAZ	Ivone Leong gene: TAZ was added gene: TAZ was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	WAS	Ivone Leong gene: WAS was added gene: WAS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	CD40LG	Ivone Leong gene: CD40LG was added gene: CD40LG was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	SOX3	Ivone Leong gene: SOX3 was added gene: SOX3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	GPR101	Ivone Leong gene: GPR101 was added gene: GPR101 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GPR101 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	NR0B1	Ivone Leong gene: NR0B1 was added gene: NR0B1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	DMD	Ivone Leong gene: DMD was added gene: DMD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	F9	Ivone Leong gene: F9 was added gene: F9 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	F8	Ivone Leong gene: F8 was added gene: F8 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	IDS	Ivone Leong gene: IDS was added gene: IDS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	ALAS2	Ivone Leong gene: ALAS2 was added gene: ALAS2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	PHEX	Ivone Leong gene: PHEX was added gene: PHEX was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	GLA	Ivone Leong gene: GLA was added gene: GLA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	SLC35A2	Ivone Leong gene: SLC35A2 was added gene: SLC35A2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	CFP	Ivone Leong gene: CFP was added gene: CFP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	CYBB	Ivone Leong gene: CYBB was added gene: CYBB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	ABCD1	Ivone Leong gene: ABCD1 was added gene: ABCD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	TSR2	Ivone Leong gene: TSR2 was added gene: TSR2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	GATA1	Ivone Leong gene: GATA1 was added gene: GATA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	FANCB	Ivone Leong gene: FANCB was added gene: FANCB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	XIAP	Ivone Leong gene: XIAP was added gene: XIAP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	SH2D1A	Ivone Leong gene: SH2D1A was added gene: SH2D1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	FOXP3	Ivone Leong gene: FOXP3 was added gene: FOXP3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	IKBKG	Ivone Leong gene: IKBKG was added gene: IKBKG was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	IL2RG	Ivone Leong gene: IL2RG was added gene: IL2RG was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	PHKA1	Ivone Leong gene: PHKA1 was added gene: PHKA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	PHKA2	Ivone Leong gene: PHKA2 was added gene: PHKA2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	OTC	Ivone Leong gene: OTC was added gene: OTC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Nov 2021	NewbornFullV1 v0.1	TREX1	Ivone Leong gene: TREX1 was added gene: TREX1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ADAR	Ivone Leong gene: ADAR was added gene: ADAR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GH1	Ivone Leong gene: GH1 was added gene: GH1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AQP2	Ivone Leong gene: AQP2 was added gene: AQP2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COL4A3	Ivone Leong gene: COL4A3 was added gene: COL4A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COL4A4	Ivone Leong gene: COL4A4 was added gene: COL4A4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COL4A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TCF3	Ivone Leong gene: TCF3 was added gene: TCF3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TCF3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PIK3R1	Ivone Leong gene: PIK3R1 was added gene: PIK3R1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	STAT1	Ivone Leong gene: STAT1 was added gene: STAT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CARD11	Ivone Leong gene: CARD11 was added gene: CARD11 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PIK3CD	Ivone Leong gene: PIK3CD was added gene: PIK3CD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PIK3CD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	KLHL3	Ivone Leong gene: KLHL3 was added gene: KLHL3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC4A1	Ivone Leong gene: SLC4A1 was added gene: SLC4A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HESX1	Ivone Leong gene: HESX1 was added gene: HESX1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	POU1F1	Ivone Leong gene: POU1F1 was added gene: POU1F1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC2A1	Ivone Leong gene: SLC2A1 was added gene: SLC2A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GCH1	Ivone Leong gene: GCH1 was added gene: GCH1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CLCN1	Ivone Leong gene: CLCN1 was added gene: CLCN1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CHRNB1	Ivone Leong gene: CHRNB1 was added gene: CHRNB1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CHRND	Ivone Leong gene: CHRND was added gene: CHRND was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CHRNA1	Ivone Leong gene: CHRNA1 was added gene: CHRNA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CHRNE	Ivone Leong gene: CHRNE was added gene: CHRNE was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SERPING1	Ivone Leong gene: SERPING1 was added gene: SERPING1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SERPING1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CFH	Ivone Leong gene: CFH was added gene: CFH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD46	Ivone Leong gene: CD46 was added gene: CD46 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD46 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CFHR1	Ivone Leong gene: CFHR1 was added gene: CFHR1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CFHR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RAC2	Ivone Leong gene: RAC2 was added gene: RAC2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RAC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	WFS1	Ivone Leong gene: WFS1 was added gene: WFS1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NEUROD1	Ivone Leong gene: NEUROD1 was added gene: NEUROD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	INS	Ivone Leong gene: INS was added gene: INS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ABCC8	Ivone Leong gene: ABCC8 was added gene: ABCC8 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GLRB	Ivone Leong gene: GLRB was added gene: GLRB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GLRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC6A5	Ivone Leong gene: SLC6A5 was added gene: SLC6A5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GLRA1	Ivone Leong gene: GLRA1 was added gene: GLRA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HFE	Ivone Leong gene: HFE was added gene: HFE was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CP	Ivone Leong gene: CP was added gene: CP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MUTYH	Ivone Leong gene: MUTYH was added gene: MUTYH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LDLRAP1	Ivone Leong gene: LDLRAP1 was added gene: LDLRAP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SORD	Ivone Leong gene: SORD was added gene: SORD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TRMU	Ivone Leong gene: TRMU was added gene: TRMU was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TK2	Ivone Leong gene: TK2 was added gene: TK2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DNASE2	Ivone Leong gene: DNASE2 was added gene: DNASE2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RNU7-1	Ivone Leong gene: RNU7-1 was added gene: RNU7-1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LSM11	Ivone Leong gene: LSM11 was added gene: LSM11 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RNASEH2A	Ivone Leong gene: RNASEH2A was added gene: RNASEH2A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RNASEH2B	Ivone Leong gene: RNASEH2B was added gene: RNASEH2B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RNASEH2C	Ivone Leong gene: RNASEH2C was added gene: RNASEH2C was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SAMHD1	Ivone Leong gene: SAMHD1 was added gene: SAMHD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ECHS1	Ivone Leong gene: ECHS1 was added gene: ECHS1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HIBCH	Ivone Leong gene: HIBCH was added gene: HIBCH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP7B1	Ivone Leong gene: CYP7B1 was added gene: CYP7B1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AKR1D1	Ivone Leong gene: AKR1D1 was added gene: AKR1D1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HSD3B7	Ivone Leong gene: HSD3B7 was added gene: HSD3B7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC9A3	Ivone Leong gene: SLC9A3 was added gene: SLC9A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC26A3	Ivone Leong gene: SLC26A3 was added gene: SLC26A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC6A6	Ivone Leong gene: SLC6A6 was added gene: SLC6A6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RNPC3	Ivone Leong gene: RNPC3 was added gene: RNPC3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GHR	Ivone Leong gene: GHR was added gene: GHR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GHRHR	Ivone Leong gene: GHRHR was added gene: GHRHR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	VKORC1	Ivone Leong gene: VKORC1 was added gene: VKORC1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GGCX	Ivone Leong gene: GGCX was added gene: GGCX was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TSHB	Ivone Leong gene: TSHB was added gene: TSHB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IYD	Ivone Leong gene: IYD was added gene: IYD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FOXE1	Ivone Leong gene: FOXE1 was added gene: FOXE1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TRHR	Ivone Leong gene: TRHR was added gene: TRHR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TSHR	Ivone Leong gene: TSHR was added gene: TSHR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC26A7	Ivone Leong gene: SLC26A7 was added gene: SLC26A7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC5A5	Ivone Leong gene: SLC5A5 was added gene: SLC5A5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC26A4	Ivone Leong gene: SLC26A4 was added gene: SLC26A4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TPO	Ivone Leong gene: TPO was added gene: TPO was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DUOXA2	Ivone Leong gene: DUOXA2 was added gene: DUOXA2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TG	Ivone Leong gene: TG was added gene: TG was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DUOX2	Ivone Leong gene: DUOX2 was added gene: DUOX2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AHCY	Ivone Leong gene: AHCY was added gene: AHCY was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	OTULIN	Ivone Leong gene: OTULIN was added gene: OTULIN was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LPIN2	Ivone Leong gene: LPIN2 was added gene: LPIN2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NIPAL4	Ivone Leong gene: NIPAL4 was added gene: NIPAL4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL36RN	Ivone Leong gene: IL36RN was added gene: IL36RN was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL1RN	Ivone Leong gene: IL1RN was added gene: IL1RN was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MVK	Ivone Leong gene: MVK was added gene: MVK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MEFV	Ivone Leong gene: MEFV was added gene: MEFV was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BSND	Ivone Leong gene: BSND was added gene: BSND was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	KCNJ1	Ivone Leong gene: KCNJ1 was added gene: KCNJ1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC12A1	Ivone Leong gene: SLC12A1 was added gene: SLC12A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CLCNKB	Ivone Leong gene: CLCNKB was added gene: CLCNKB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TRPM6	Ivone Leong gene: TRPM6 was added gene: TRPM6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC12A3	Ivone Leong gene: SLC12A3 was added gene: SLC12A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GPIHBP1	Ivone Leong gene: GPIHBP1 was added gene: GPIHBP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	APOA5	Ivone Leong gene: APOA5 was added gene: APOA5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: APOA5 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LMF1	Ivone Leong gene: LMF1 was added gene: LMF1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	APOC2	Ivone Leong gene: APOC2 was added gene: APOC2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LPL	Ivone Leong gene: LPL was added gene: LPL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TFR2	Ivone Leong gene: TFR2 was added gene: TFR2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HAMP	Ivone Leong gene: HAMP was added gene: HAMP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HFE2	Ivone Leong gene: HFE2 was added gene: HFE2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	APRT	Ivone Leong gene: APRT was added gene: APRT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BLNK	Ivone Leong gene: BLNK was added gene: BLNK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD79B	Ivone Leong gene: CD79B was added gene: CD79B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD79A	Ivone Leong gene: CD79A was added gene: CD79A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IGLL1	Ivone Leong gene: IGLL1 was added gene: IGLL1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IGHM	Ivone Leong gene: IGHM was added gene: IGHM was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PRKCD	Ivone Leong gene: PRKCD was added gene: PRKCD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PRKCD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	WIPF1	Ivone Leong gene: WIPF1 was added gene: WIPF1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ARPC1B	Ivone Leong gene: ARPC1B was added gene: ARPC1B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IRF8	Ivone Leong gene: IRF8 was added gene: IRF8 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RASGRP1	Ivone Leong gene: RASGRP1 was added gene: RASGRP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HELLS	Ivone Leong gene: HELLS was added gene: HELLS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CDCA7	Ivone Leong gene: CDCA7 was added gene: CDCA7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ZBTB24	Ivone Leong gene: ZBTB24 was added gene: ZBTB24 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DNMT3B	Ivone Leong gene: DNMT3B was added gene: DNMT3B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AICDA	Ivone Leong gene: AICDA was added gene: AICDA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD70	Ivone Leong gene: CD70 was added gene: CD70 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ITK	Ivone Leong gene: ITK was added gene: ITK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MAP3K14	Ivone Leong gene: MAP3K14 was added gene: MAP3K14 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MAP3K14 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LIG1	Ivone Leong gene: LIG1 was added gene: LIG1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MALT1	Ivone Leong gene: MALT1 was added gene: MALT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL21R	Ivone Leong gene: IL21R was added gene: IL21R was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL21R was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD27	Ivone Leong gene: CD27 was added gene: CD27 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL21	Ivone Leong gene: IL21 was added gene: IL21 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ICOS	Ivone Leong gene: ICOS was added gene: ICOS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LRBA	Ivone Leong gene: LRBA was added gene: LRBA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CR2	Ivone Leong gene: CR2 was added gene: CR2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MS4A1	Ivone Leong gene: MS4A1 was added gene: MS4A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MS4A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD81	Ivone Leong gene: CD81 was added gene: CD81 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD19	Ivone Leong gene: CD19 was added gene: CD19 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD19 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TNFRSF13C	Ivone Leong gene: TNFRSF13C was added gene: TNFRSF13C was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TNFRSF13C was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	USP18	Ivone Leong gene: USP18 was added gene: USP18 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	WDR1	Ivone Leong gene: WDR1 was added gene: WDR1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SMARCD2	Ivone Leong gene: SMARCD2 was added gene: SMARCD2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	STK4	Ivone Leong gene: STK4 was added gene: STK4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LAMTOR2	Ivone Leong gene: LAMTOR2 was added gene: LAMTOR2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CSF3R	Ivone Leong gene: CSF3R was added gene: CSF3R was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CSF3R was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	VPS45	Ivone Leong gene: VPS45 was added gene: VPS45 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	JAGN1	Ivone Leong gene: JAGN1 was added gene: JAGN1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	G6PC3	Ivone Leong gene: G6PC3 was added gene: G6PC3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HAX1	Ivone Leong gene: HAX1 was added gene: HAX1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	EFL1	Ivone Leong gene: EFL1 was added gene: EFL1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DNAJC21	Ivone Leong gene: DNAJC21 was added gene: DNAJC21 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AP3B1	Ivone Leong gene: AP3B1 was added gene: AP3B1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LYST	Ivone Leong gene: LYST was added gene: LYST was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RAB27A	Ivone Leong gene: RAB27A was added gene: RAB27A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	STXBP2	Ivone Leong gene: STXBP2 was added gene: STXBP2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	STX11	Ivone Leong gene: STX11 was added gene: STX11 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	UNC13D	Ivone Leong gene: UNC13D was added gene: UNC13D was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PRF1	Ivone Leong gene: PRF1 was added gene: PRF1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MYD88	Ivone Leong gene: MYD88 was added gene: MYD88 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IRAK4	Ivone Leong gene: IRAK4 was added gene: IRAK4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	UNG	Ivone Leong gene: UNG was added gene: UNG was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD40	Ivone Leong gene: CD40 was added gene: CD40 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ITGB2	Ivone Leong gene: ITGB2 was added gene: ITGB2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FERMT3	Ivone Leong gene: FERMT3 was added gene: FERMT3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GALM	Ivone Leong gene: GALM was added gene: GALM was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GALK1	Ivone Leong gene: GALK1 was added gene: GALK1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GALE	Ivone Leong gene: GALE was added gene: GALE was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GALT	Ivone Leong gene: GALT was added gene: GALT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TNFRSF11A	Ivone Leong gene: TNFRSF11A was added gene: TNFRSF11A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SNX10	Ivone Leong gene: SNX10 was added gene: SNX10 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CA2	Ivone Leong gene: CA2 was added gene: CA2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TCIRG1	Ivone Leong gene: TCIRG1 was added gene: TCIRG1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CLCN7	Ivone Leong gene: CLCN7 was added gene: CLCN7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	VDR	Ivone Leong gene: VDR was added gene: VDR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP2R1	Ivone Leong gene: CYP2R1 was added gene: CYP2R1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP27B1	Ivone Leong gene: CYP27B1 was added gene: CYP27B1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC4A4	Ivone Leong gene: SLC4A4 was added gene: SLC4A4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	WDR72	Ivone Leong gene: WDR72 was added gene: WDR72 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FOXI1	Ivone Leong gene: FOXI1 was added gene: FOXI1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ATP6V1B1	Ivone Leong gene: ATP6V1B1 was added gene: ATP6V1B1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ATP6V0A4	Ivone Leong gene: ATP6V0A4 was added gene: ATP6V0A4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC5A1	Ivone Leong gene: SLC5A1 was added gene: SLC5A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SI	Ivone Leong gene: SI was added gene: SI was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LHX3	Ivone Leong gene: LHX3 was added gene: LHX3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PROP1	Ivone Leong gene: PROP1 was added gene: PROP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CA12	Ivone Leong gene: CA12 was added gene: CA12 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CA12 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AAAS	Ivone Leong gene: AAAS was added gene: AAAS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MCM4	Ivone Leong gene: MCM4 was added gene: MCM4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	POR	Ivone Leong gene: POR was added gene: POR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP17A1	Ivone Leong gene: CYP17A1 was added gene: CYP17A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SGPL1	Ivone Leong gene: SGPL1 was added gene: SGPL1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NNT	Ivone Leong gene: NNT was added gene: NNT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MRAP	Ivone Leong gene: MRAP was added gene: MRAP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HSD3B2	Ivone Leong gene: HSD3B2 was added gene: HSD3B2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP11A1	Ivone Leong gene: CYP11A1 was added gene: CYP11A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	STAR	Ivone Leong gene: STAR was added gene: STAR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	POMC	Ivone Leong gene: POMC was added gene: POMC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TBX19	Ivone Leong gene: TBX19 was added gene: TBX19 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MC2R	Ivone Leong gene: MC2R was added gene: MC2R was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP11B1	Ivone Leong gene: CYP11B1 was added gene: CYP11B1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP21A2	Ivone Leong gene: CYP21A2 was added gene: CYP21A2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IGF1	Ivone Leong gene: IGF1 was added gene: IGF1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IGFALS	Ivone Leong gene: IGFALS was added gene: IGFALS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PKLR	Ivone Leong gene: PKLR was added gene: PKLR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TF	Ivone Leong gene: TF was added gene: TF was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HBA2	Ivone Leong gene: HBA2 was added gene: HBA2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HBA1	Ivone Leong gene: HBA1 was added gene: HBA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HBB	Ivone Leong gene: HBB was added gene: HBB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SMN1	Ivone Leong gene: SMN1 was added gene: SMN1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GATM	Ivone Leong gene: GATM was added gene: GATM was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GAMT	Ivone Leong gene: GAMT was added gene: GAMT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PLG	Ivone Leong gene: PLG was added gene: PLG was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	F13B	Ivone Leong gene: F13B was added gene: F13B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	F13A1	Ivone Leong gene: F13A1 was added gene: F13A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FGG	Ivone Leong gene: FGG was added gene: FGG was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FGB	Ivone Leong gene: FGB was added gene: FGB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FGA	Ivone Leong gene: FGA was added gene: FGA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FUCA1	Ivone Leong gene: FUCA1 was added gene: FUCA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NPC2	Ivone Leong gene: NPC2 was added gene: NPC2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NPC1	Ivone Leong gene: NPC1 was added gene: NPC1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GUSB	Ivone Leong gene: GUSB was added gene: GUSB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NAGLU	Ivone Leong gene: NAGLU was added gene: NAGLU was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ARSB	Ivone Leong gene: ARSB was added gene: ARSB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GALNS	Ivone Leong gene: GALNS was added gene: GALNS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MAN2B1	Ivone Leong gene: MAN2B1 was added gene: MAN2B1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SMPD1	Ivone Leong gene: SMPD1 was added gene: SMPD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IDUA	Ivone Leong gene: IDUA was added gene: IDUA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GBA	Ivone Leong gene: GBA was added gene: GBA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TPP1	Ivone Leong gene: TPP1 was added gene: TPP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC25A38	Ivone Leong gene: SLC25A38 was added gene: SLC25A38 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TTPA	Ivone Leong gene: TTPA was added gene: TTPA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC25A19	Ivone Leong gene: SLC25A19 was added gene: SLC25A19 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC19A3	Ivone Leong gene: SLC19A3 was added gene: SLC19A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TPK1	Ivone Leong gene: TPK1 was added gene: TPK1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ATP7A	Ivone Leong gene: ATP7A was added gene: ATP7A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ATP7B	Ivone Leong gene: ATP7B was added gene: ATP7B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	KDSR	Ivone Leong gene: KDSR was added gene: KDSR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC39A4	Ivone Leong gene: SLC39A4 was added gene: SLC39A4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC34A3	Ivone Leong gene: SLC34A3 was added gene: SLC34A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LIPA	Ivone Leong gene: LIPA was added gene: LIPA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC5A6	Ivone Leong gene: SLC5A6 was added gene: SLC5A6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC52A3	Ivone Leong gene: SLC52A3 was added gene: SLC52A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC52A2	Ivone Leong gene: SLC52A2 was added gene: SLC52A2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CAD	Ivone Leong gene: CAD was added gene: CAD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TMEM165	Ivone Leong gene: TMEM165 was added gene: TMEM165 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC39A8	Ivone Leong gene: SLC39A8 was added gene: SLC39A8 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC35C1	Ivone Leong gene: SLC35C1 was added gene: SLC35C1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PGM1	Ivone Leong gene: PGM1 was added gene: PGM1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MPI	Ivone Leong gene: MPI was added gene: MPI was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MOCS1	Ivone Leong gene: MOCS1 was added gene: MOCS1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC22A5	Ivone Leong gene: SLC22A5 was added gene: SLC22A5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FECH	Ivone Leong gene: FECH was added gene: FECH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ALAD	Ivone Leong gene: ALAD was added gene: ALAD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CBS	Ivone Leong gene: CBS was added gene: CBS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC13A5	Ivone Leong gene: SLC13A5 was added gene: SLC13A5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYB561	Ivone Leong gene: CYB561 was added gene: CYB561 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYB561 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DBH	Ivone Leong gene: DBH was added gene: DBH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC18A2	Ivone Leong gene: SLC18A2 was added gene: SLC18A2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DDC	Ivone Leong gene: DDC was added gene: DDC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DNAJC12	Ivone Leong gene: DNAJC12 was added gene: DNAJC12 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	QDPR	Ivone Leong gene: QDPR was added gene: QDPR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PTS	Ivone Leong gene: PTS was added gene: PTS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SPR	Ivone Leong gene: SPR was added gene: SPR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TH	Ivone Leong gene: TH was added gene: TH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SCN4A	Ivone Leong Mode of inheritance for gene SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC25A1	Ivone Leong gene: SLC25A1 was added gene: SLC25A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MYO9A	Ivone Leong gene: MYO9A was added gene: MYO9A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	VAMP1	Ivone Leong gene: VAMP1 was added gene: VAMP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DPAGT1	Ivone Leong gene: DPAGT1 was added gene: DPAGT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RAPSN	Ivone Leong gene: RAPSN was added gene: RAPSN was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LRP4	Ivone Leong gene: LRP4 was added gene: LRP4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COL13A1	Ivone Leong gene: COL13A1 was added gene: COL13A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC18A3	Ivone Leong gene: SLC18A3 was added gene: SLC18A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CHAT	Ivone Leong gene: CHAT was added gene: CHAT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MUSK	Ivone Leong gene: MUSK was added gene: MUSK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ALG2	Ivone Leong gene: ALG2 was added gene: ALG2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DOK7	Ivone Leong gene: DOK7 was added gene: DOK7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COLQ	Ivone Leong gene: COLQ was added gene: COLQ was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC5A7	Ivone Leong gene: SLC5A7 was added gene: SLC5A7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GFPT1	Ivone Leong gene: GFPT1 was added gene: GFPT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PREPL	Ivone Leong gene: PREPL was added gene: PREPL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ALG14	Ivone Leong gene: ALG14 was added gene: ALG14 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AGRN	Ivone Leong gene: AGRN was added gene: AGRN was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C1QC	Ivone Leong gene: C1QC was added gene: C1QC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C1QB	Ivone Leong gene: C1QB was added gene: C1QB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C1QA	Ivone Leong gene: C1QA was added gene: C1QA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CFD	Ivone Leong gene: CFD was added gene: CFD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C9	Ivone Leong gene: C9 was added gene: C9 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C6	Ivone Leong gene: C6 was added gene: C6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C8B	Ivone Leong gene: C8B was added gene: C8B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C8A	Ivone Leong gene: C8A was added gene: C8A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C7	Ivone Leong gene: C7 was added gene: C7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C5	Ivone Leong gene: C5 was added gene: C5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C2	Ivone Leong gene: C2 was added gene: C2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C3	Ivone Leong Mode of inheritance for gene C3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CFI	Ivone Leong Mode of inheritance for gene CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CFB	Ivone Leong Mode of inheritance for gene CFB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ADAMTS13	Ivone Leong gene: ADAMTS13 was added gene: ADAMTS13 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ACAD9	Ivone Leong gene: ACAD9 was added gene: ACAD9 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FLAD1	Ivone Leong gene: FLAD1 was added gene: FLAD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ETFDH	Ivone Leong gene: ETFDH was added gene: ETFDH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ETFB	Ivone Leong gene: ETFB was added gene: ETFB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ETFA	Ivone Leong gene: ETFA was added gene: ETFA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HSD11B2	Ivone Leong gene: HSD11B2 was added gene: HSD11B2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP11B2	Ivone Leong Mode of inheritance for gene CYP11B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SCNN1G	Ivone Leong gene: SCNN1G was added gene: SCNN1G was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SCNN1B	Ivone Leong gene: SCNN1B was added gene: SCNN1B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SCNN1A	Ivone Leong gene: SCNN1A was added gene: SCNN1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	C17orf62	Ivone Leong gene: C17orf62 was added gene: C17orf62 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NCF4	Ivone Leong gene: NCF4 was added gene: NCF4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NCF2	Ivone Leong gene: NCF2 was added gene: NCF2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NCF1	Ivone Leong gene: NCF1 was added gene: NCF1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYBA	Ivone Leong gene: CYBA was added gene: CYBA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MPL	Ivone Leong gene: MPL was added gene: MPL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ARSA	Ivone Leong gene: ARSA was added gene: ARSA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	UBE2T	Ivone Leong gene: UBE2T was added gene: UBE2T was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLX4	Ivone Leong gene: SLX4 was added gene: SLX4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RFWD3	Ivone Leong gene: RFWD3 was added gene: RFWD3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MAD2L2	Ivone Leong gene: MAD2L2 was added gene: MAD2L2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FANCL	Ivone Leong gene: FANCL was added gene: FANCL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ERCC4	Ivone Leong gene: ERCC4 was added gene: ERCC4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FANCI	Ivone Leong gene: FANCI was added gene: FANCI was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FANCG	Ivone Leong gene: FANCG was added gene: FANCG was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FANCF	Ivone Leong gene: FANCF was added gene: FANCF was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FANCE	Ivone Leong gene: FANCE was added gene: FANCE was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FANCD2	Ivone Leong gene: FANCD2 was added gene: FANCD2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FANCC	Ivone Leong gene: FANCC was added gene: FANCC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BRIP1	Ivone Leong gene: BRIP1 was added gene: BRIP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BRCA2	Ivone Leong Mode of inheritance for gene BRCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FANCA	Ivone Leong gene: FANCA was added gene: FANCA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CTPS1	Ivone Leong gene: CTPS1 was added gene: CTPS1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MYSM1	Ivone Leong gene: MYSM1 was added gene: MYSM1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ADA2	Ivone Leong gene: ADA2 was added gene: ADA2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL2RB	Ivone Leong gene: IL2RB was added gene: IL2RB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL2RA	Ivone Leong gene: IL2RA was added gene: IL2RA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IKBKB	Ivone Leong gene: IKBKB was added gene: IKBKB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RELB	Ivone Leong gene: RELB was added gene: RELB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SP110	Ivone Leong gene: SP110 was added gene: SP110 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PAX1	Ivone Leong gene: PAX1 was added gene: PAX1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ZAP70	Ivone Leong gene: ZAP70 was added gene: ZAP70 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TTC7A	Ivone Leong gene: TTC7A was added gene: TTC7A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	STIM1	Ivone Leong gene: STIM1 was added gene: STIM1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RMRP	Ivone Leong gene: RMRP was added gene: RMRP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PGM3	Ivone Leong gene: PGM3 was added gene: PGM3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC46A1	Ivone Leong gene: SLC46A1 was added gene: SLC46A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NBN	Ivone Leong gene: NBN was added gene: NBN was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MTHFD1	Ivone Leong gene: MTHFD1 was added gene: MTHFD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LIG4	Ivone Leong gene: LIG4 was added gene: LIG4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DOCK2	Ivone Leong gene: DOCK2 was added gene: DOCK2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DOCK8	Ivone Leong gene: DOCK8 was added gene: DOCK8 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RFXAP	Ivone Leong gene: RFXAP was added gene: RFXAP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RFX5	Ivone Leong gene: RFX5 was added gene: RFX5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RFXANK	Ivone Leong gene: RFXANK was added gene: RFXANK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CIITA	Ivone Leong gene: CIITA was added gene: CIITA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CORO1A	Ivone Leong gene: CORO1A was added gene: CORO1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AK2	Ivone Leong gene: AK2 was added gene: AK2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD247	Ivone Leong gene: CD247 was added gene: CD247 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD3E	Ivone Leong gene: CD3E was added gene: CD3E was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD3D	Ivone Leong gene: CD3D was added gene: CD3D was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DCLRE1C	Ivone Leong gene: DCLRE1C was added gene: DCLRE1C was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RAG2	Ivone Leong gene: RAG2 was added gene: RAG2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RAG1	Ivone Leong gene: RAG1 was added gene: RAG1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ADA	Ivone Leong gene: ADA was added gene: ADA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PTPRC	Ivone Leong gene: PTPRC was added gene: PTPRC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL7R	Ivone Leong gene: IL7R was added gene: IL7R was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ORAI1	Ivone Leong gene: ORAI1 was added gene: ORAI1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PRKDC	Ivone Leong gene: PRKDC was added gene: PRKDC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PNP	Ivone Leong gene: PNP was added gene: PNP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FOXN1	Ivone Leong gene: FOXN1 was added gene: FOXN1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NHEJ1	Ivone Leong gene: NHEJ1 was added gene: NHEJ1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LCK	Ivone Leong gene: LCK was added gene: LCK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LCK was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	JAK3	Ivone Leong gene: JAK3 was added gene: JAK3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL10RA	Ivone Leong gene: IL10RA was added gene: IL10RA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL10RB	Ivone Leong gene: IL10RB was added gene: IL10RB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IL10	Ivone Leong gene: IL10 was added gene: IL10 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NKX2-2	Ivone Leong gene: NKX2-2 was added gene: NKX2-2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MNX1	Ivone Leong gene: MNX1 was added gene: MNX1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC19A2	Ivone Leong gene: SLC19A2 was added gene: SLC19A2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NEUROG3	Ivone Leong gene: NEUROG3 was added gene: NEUROG3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RFX6	Ivone Leong gene: RFX6 was added gene: RFX6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GLIS3	Ivone Leong gene: GLIS3 was added gene: GLIS3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	EIF2AK3	Ivone Leong gene: EIF2AK3 was added gene: EIF2AK3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PTF1A	Ivone Leong gene: PTF1A was added gene: PTF1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	KCNJ11	Ivone Leong Mode of inheritance for gene KCNJ11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GCK	Ivone Leong Mode of inheritance for gene GCK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PMM2	Ivone Leong gene: PMM2 was added gene: PMM2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HADH	Ivone Leong gene: HADH was added gene: HADH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC25A15	Ivone Leong gene: SLC25A15 was added gene: SLC25A15 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CPS1	Ivone Leong gene: CPS1 was added gene: CPS1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ASS1	Ivone Leong gene: ASS1 was added gene: ASS1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC25A13	Ivone Leong gene: SLC25A13 was added gene: SLC25A13 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MLYCD	Ivone Leong gene: MLYCD was added gene: MLYCD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC25A20	Ivone Leong gene: SLC25A20 was added gene: SLC25A20 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ACAT1	Ivone Leong gene: ACAT1 was added gene: ACAT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	OXCT1	Ivone Leong gene: OXCT1 was added gene: OXCT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HMGCS2	Ivone Leong gene: HMGCS2 was added gene: HMGCS2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HMGCL	Ivone Leong gene: HMGCL was added gene: HMGCL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MCCC2	Ivone Leong gene: MCCC2 was added gene: MCCC2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MCCC1	Ivone Leong gene: MCCC1 was added gene: MCCC1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HADHB	Ivone Leong gene: HADHB was added gene: HADHB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HADHA	Ivone Leong gene: HADHA was added gene: HADHA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CPT2	Ivone Leong gene: CPT2 was added gene: CPT2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CPT1A	Ivone Leong gene: CPT1A was added gene: CPT1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ACADVL	Ivone Leong gene: ACADVL was added gene: ACADVL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TAT	Ivone Leong gene: TAT was added gene: TAT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FAH	Ivone Leong gene: FAH was added gene: FAH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CA5A	Ivone Leong gene: CA5A was added gene: CA5A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	NAGS	Ivone Leong gene: NAGS was added gene: NAGS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DHFR	Ivone Leong gene: DHFR was added gene: DHFR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MTHFR	Ivone Leong gene: MTHFR was added gene: MTHFR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MTHFS	Ivone Leong gene: MTHFS was added gene: MTHFS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC19A1	Ivone Leong gene: SLC19A1 was added gene: SLC19A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FOLR1	Ivone Leong gene: FOLR1 was added gene: FOLR1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HLCS	Ivone Leong gene: HLCS was added gene: HLCS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HOGA1	Ivone Leong gene: HOGA1 was added gene: HOGA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GRHPR	Ivone Leong gene: GRHPR was added gene: GRHPR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AGXT	Ivone Leong gene: AGXT was added gene: AGXT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CAVIN1	Ivone Leong gene: CAVIN1 was added gene: CAVIN1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CAV1	Ivone Leong gene: CAV1 was added gene: CAV1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BSCL2	Ivone Leong gene: BSCL2 was added gene: BSCL2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AGPAT2	Ivone Leong gene: AGPAT2 was added gene: AGPAT2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PCSK1	Ivone Leong gene: PCSK1 was added gene: PCSK1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LEPR	Ivone Leong gene: LEPR was added gene: LEPR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LEP	Ivone Leong gene: LEP was added gene: LEP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SAR1B	Ivone Leong gene: SAR1B was added gene: SAR1B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	APOB	Ivone Leong Mode of inheritance for gene APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MTTP	Ivone Leong gene: MTTP was added gene: MTTP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DGAT1	Ivone Leong gene: DGAT1 was added gene: DGAT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ABCC6	Ivone Leong gene: ABCC6 was added gene: ABCC6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ENPP1	Ivone Leong gene: ENPP1 was added gene: ENPP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CTNS	Ivone Leong gene: CTNS was added gene: CTNS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AMN	Ivone Leong gene: AMN was added gene: AMN was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CUBN	Ivone Leong gene: CUBN was added gene: CUBN was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GIF	Ivone Leong gene: GIF was added gene: GIF was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	TCN2	Ivone Leong gene: TCN2 was added gene: TCN2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MTR	Ivone Leong gene: MTR was added gene: MTR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MTRR	Ivone Leong gene: MTRR was added gene: MTRR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CD320	Ivone Leong gene: CD320 was added gene: CD320 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ABCD4	Ivone Leong gene: ABCD4 was added gene: ABCD4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	LMBRD1	Ivone Leong gene: LMBRD1 was added gene: LMBRD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ZNF143	Ivone Leong gene: ZNF143 was added gene: ZNF143 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	THAP11	Ivone Leong gene: THAP11 was added gene: THAP11 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	HCFC1	Ivone Leong gene: HCFC1 was added gene: HCFC1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PRDX1	Ivone Leong gene: PRDX1 was added gene: PRDX1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PRDX1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MCEE	Ivone Leong gene: MCEE was added gene: MCEE was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MMACHC	Ivone Leong gene: MMACHC was added gene: MMACHC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MMADHC	Ivone Leong gene: MMADHC was added gene: MMADHC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MMAB	Ivone Leong gene: MMAB was added gene: MMAB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MUT	Ivone Leong gene: MUT was added gene: MUT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	MMAA	Ivone Leong gene: MMAA was added gene: MMAA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PCCB	Ivone Leong gene: PCCB was added gene: PCCB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PCCA	Ivone Leong gene: PCCA was added gene: PCCA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PDSS2	Ivone Leong gene: PDSS2 was added gene: PDSS2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PDSS1	Ivone Leong gene: PDSS1 was added gene: PDSS1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COQ9	Ivone Leong gene: COQ9 was added gene: COQ9 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COQ8B	Ivone Leong gene: COQ8B was added gene: COQ8B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COQ8A	Ivone Leong gene: COQ8A was added gene: COQ8A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COQ7	Ivone Leong gene: COQ7 was added gene: COQ7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COQ2	Ivone Leong gene: COQ2 was added gene: COQ2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COQ6	Ivone Leong gene: COQ6 was added gene: COQ6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	COQ4	Ivone Leong gene: COQ4 was added gene: COQ4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC7A7	Ivone Leong gene: SLC7A7 was added gene: SLC7A7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ASL	Ivone Leong gene: ASL was added gene: ASL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ARG1	Ivone Leong gene: ARG1 was added gene: ARG1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BTD	Ivone Leong gene: BTD was added gene: BTD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ABCG8	Ivone Leong gene: ABCG8 was added gene: ABCG8 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ABCG5	Ivone Leong gene: ABCG5 was added gene: ABCG5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	RPE65	Ivone Leong gene: RPE65 was added gene: RPE65 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CYP27A1	Ivone Leong gene: CYP27A1 was added gene: CYP27A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC39A14	Ivone Leong gene: SLC39A14 was added gene: SLC39A14 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC30A10	Ivone Leong gene: SLC30A10 was added gene: SLC30A10 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PYGL	Ivone Leong gene: PYGL was added gene: PYGL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PHKG2	Ivone Leong gene: PHKG2 was added gene: PHKG2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PHKB	Ivone Leong gene: PHKB was added gene: PHKB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	AGL	Ivone Leong gene: AGL was added gene: AGL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SLC37A4	Ivone Leong gene: SLC37A4 was added gene: SLC37A4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	G6PC	Ivone Leong gene: G6PC was added gene: G6PC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ALDOB	Ivone Leong gene: ALDOB was added gene: ALDOB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	FBP1	Ivone Leong gene: FBP1 was added gene: FBP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PSPH	Ivone Leong gene: PSPH was added gene: PSPH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PSAT1	Ivone Leong gene: PSAT1 was added gene: PSAT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PHGDH	Ivone Leong gene: PHGDH was added gene: PHGDH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	OAT	Ivone Leong gene: OAT was added gene: OAT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	UMPS	Ivone Leong gene: UMPS was added gene: UMPS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GCDH	Ivone Leong gene: GCDH was added gene: GCDH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	IVD	Ivone Leong gene: IVD was added gene: IVD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BCKDK	Ivone Leong gene: BCKDK was added gene: BCKDK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BCKDHB	Ivone Leong gene: BCKDHB was added gene: BCKDHB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BCKDHA	Ivone Leong gene: BCKDHA was added gene: BCKDHA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	DBT	Ivone Leong gene: DBT was added gene: DBT was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	SERPINA1	Ivone Leong gene: SERPINA1 was added gene: SERPINA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	CFTR	Ivone Leong gene: CFTR was added gene: CFTR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ALPL	Ivone Leong gene: ALPL was added gene: ALPL was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ALDH4A1	Ivone Leong gene: ALDH4A1 was added gene: ALDH4A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GOT2	Ivone Leong gene: GOT2 was added gene: GOT2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PNPO	Ivone Leong gene: PNPO was added gene: PNPO was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PLPBP	Ivone Leong gene: PLPBP was added gene: PLPBP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ALDH7A1	Ivone Leong gene: ALDH7A1 was added gene: ALDH7A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	ACADM	Ivone Leong gene: ACADM was added gene: ACADM was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GALC	Ivone Leong gene: GALC was added gene: GALC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	GAA	Ivone Leong gene: GAA was added gene: GAA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	PAH	Ivone Leong gene: PAH was added gene: PAH was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
11 Nov 2021	NewbornFullV1 v0.1	BMPR1A	Ivone Leong gene: BMPR1A was added gene: BMPR1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	EPCAM	Ivone Leong gene: EPCAM was added gene: EPCAM was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PMS2	Ivone Leong gene: PMS2 was added gene: PMS2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	MSH6	Ivone Leong gene: MSH6 was added gene: MSH6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	MSH2	Ivone Leong gene: MSH2 was added gene: MSH2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	MLH1	Ivone Leong gene: MLH1 was added gene: MLH1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	APOE	Ivone Leong gene: APOE was added gene: APOE was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	APOB	Ivone Leong gene: APOB was added gene: APOB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PCSK9	Ivone Leong gene: PCSK9 was added gene: PCSK9 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	LDLR	Ivone Leong gene: LDLR was added gene: LDLR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PALB2	Ivone Leong gene: PALB2 was added gene: PALB2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	BRCA2	Ivone Leong gene: BRCA2 was added gene: BRCA2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	BRCA1	Ivone Leong gene: BRCA1 was added gene: BRCA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SLC30A2	Ivone Leong gene: SLC30A2 was added gene: SLC30A2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC30A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	UROD	Ivone Leong gene: UROD was added gene: UROD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PIK3CA	Ivone Leong gene: PIK3CA was added gene: PIK3CA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	LMNA	Ivone Leong gene: LMNA was added gene: LMNA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SMAD4	Ivone Leong gene: SMAD4 was added gene: SMAD4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	IFIH1	Ivone Leong gene: IFIH1 was added gene: IFIH1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	THRA	Ivone Leong gene: THRA was added gene: THRA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NKX2-1	Ivone Leong gene: NKX2-1 was added gene: NKX2-1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PAX8	Ivone Leong gene: PAX8 was added gene: PAX8 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PKD2	Ivone Leong gene: PKD2 was added gene: PKD2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PKD1	Ivone Leong gene: PKD1 was added gene: PKD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PDGFRB	Ivone Leong gene: PDGFRB was added gene: PDGFRB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NF1	Ivone Leong gene: NF1 was added gene: NF1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SFTPC	Ivone Leong gene: SFTPC was added gene: SFTPC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	TNFAIP3	Ivone Leong gene: TNFAIP3 was added gene: TNFAIP3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CARD14	Ivone Leong gene: CARD14 was added gene: CARD14 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	TNFRSF1A	Ivone Leong gene: TNFRSF1A was added gene: TNFRSF1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NLRP12	Ivone Leong gene: NLRP12 was added gene: NLRP12 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NLRP3	Ivone Leong gene: NLRP3 was added gene: NLRP3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NLRC4	Ivone Leong gene: NLRC4 was added gene: NLRC4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NOD2	Ivone Leong gene: NOD2 was added gene: NOD2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	AVP	Ivone Leong gene: AVP was added gene: AVP was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	KCNA1	Ivone Leong gene: KCNA1 was added gene: KCNA1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	FAM111A	Ivone Leong gene: FAM111A was added gene: FAM111A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	FXYD2	Ivone Leong gene: FXYD2 was added gene: FXYD2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SLC40A1	Ivone Leong gene: SLC40A1 was added gene: SLC40A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	GATA2	Ivone Leong gene: GATA2 was added gene: GATA2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PSTPIP1	Ivone Leong gene: PSTPIP1 was added gene: PSTPIP1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	STAT3	Ivone Leong gene: STAT3 was added gene: STAT3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PLCG2	Ivone Leong gene: PLCG2 was added gene: PLCG2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CTLA4	Ivone Leong gene: CTLA4 was added gene: CTLA4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	IKZF1	Ivone Leong gene: IKZF1 was added gene: IKZF1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	IRF2BP2	Ivone Leong gene: IRF2BP2 was added gene: IRF2BP2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NFKB2	Ivone Leong gene: NFKB2 was added gene: NFKB2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	TNFRSF13B	Ivone Leong gene: TNFRSF13B was added gene: TNFRSF13B was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TNFRSF13B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NFKB1	Ivone Leong gene: NFKB1 was added gene: NFKB1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CXCR4	Ivone Leong gene: CXCR4 was added gene: CXCR4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	GFI1	Ivone Leong gene: GFI1 was added gene: GFI1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	ELANE	Ivone Leong gene: ELANE was added gene: ELANE was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SRP54	Ivone Leong gene: SRP54 was added gene: SRP54 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SBDS	Ivone Leong gene: SBDS was added gene: SBDS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SBDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	GNAS	Ivone Leong gene: GNAS was added gene: GNAS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CUL3	Ivone Leong gene: CUL3 was added gene: CUL3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	WNK4	Ivone Leong gene: WNK4 was added gene: WNK4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	WNK1	Ivone Leong gene: WNK1 was added gene: WNK1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: WNK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	LHX4	Ivone Leong gene: LHX4 was added gene: LHX4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CDKN1C	Ivone Leong gene: CDKN1C was added gene: CDKN1C was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NR5A1	Ivone Leong gene: NR5A1 was added gene: NR5A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RET	Ivone Leong gene: RET was added gene: RET was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	APC	Ivone Leong gene: APC was added gene: APC was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	TTR	Ivone Leong gene: TTR was added gene: TTR was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SLC1A3	Ivone Leong gene: SLC1A3 was added gene: SLC1A3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CACNA1A	Ivone Leong gene: CACNA1A was added gene: CACNA1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CPOX	Ivone Leong gene: CPOX was added gene: CPOX was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PPOX	Ivone Leong gene: PPOX was added gene: PPOX was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	HMBS	Ivone Leong gene: HMBS was added gene: HMBS was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	TSC1	Ivone Leong gene: TSC1 was added gene: TSC1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	TSC2	Ivone Leong gene: TSC2 was added gene: TSC2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CACNA1S	Ivone Leong gene: CACNA1S was added gene: CACNA1S was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SCN4A	Ivone Leong gene: SCN4A was added gene: SCN4A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SNAP25	Ivone Leong gene: SNAP25 was added gene: SNAP25 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SYT2	Ivone Leong gene: SYT2 was added gene: SYT2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SCN8A	Ivone Leong gene: SCN8A was added gene: SCN8A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SCN2A	Ivone Leong gene: SCN2A was added gene: SCN2A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SCN1A	Ivone Leong gene: SCN1A was added gene: SCN1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PRRT2	Ivone Leong gene: PRRT2 was added gene: PRRT2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	KCNT1	Ivone Leong gene: KCNT1 was added gene: KCNT1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	GRIN2A	Ivone Leong gene: GRIN2A was added gene: GRIN2A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	KCNQ2	Ivone Leong gene: KCNQ2 was added gene: KCNQ2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	C3	Ivone Leong gene: C3 was added gene: C3 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: C3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CFI	Ivone Leong gene: CFI was added gene: CFI was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CFB	Ivone Leong gene: CFB was added gene: CFB was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	THBD	Ivone Leong gene: THBD was added gene: THBD was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SCN3A	Ivone Leong gene: SCN3A was added gene: SCN3A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CACNA1D	Ivone Leong gene: CACNA1D was added gene: CACNA1D was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CACNA1H	Ivone Leong gene: CACNA1H was added gene: CACNA1H was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	KCNJ5	Ivone Leong gene: KCNJ5 was added gene: KCNJ5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CLCN2	Ivone Leong gene: CLCN2 was added gene: CLCN2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CYP11B2	Ivone Leong gene: CYP11B2 was added gene: CYP11B2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CYP11B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NR3C2	Ivone Leong gene: NR3C2 was added gene: NR3C2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	MECOM	Ivone Leong gene: MECOM was added gene: MECOM was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	HOXA11	Ivone Leong gene: HOXA11 was added gene: HOXA11 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS29	Ivone Leong gene: RPS29 was added gene: RPS29 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS28	Ivone Leong gene: RPS28 was added gene: RPS28 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS27	Ivone Leong gene: RPS27 was added gene: RPS27 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS15A	Ivone Leong gene: RPS15A was added gene: RPS15A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS7	Ivone Leong gene: RPS7 was added gene: RPS7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL35	Ivone Leong gene: RPL35 was added gene: RPL35 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL31	Ivone Leong gene: RPL31 was added gene: RPL31 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL27	Ivone Leong gene: RPL27 was added gene: RPL27 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL26	Ivone Leong gene: RPL26 was added gene: RPL26 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL18	Ivone Leong gene: RPL18 was added gene: RPL18 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL15	Ivone Leong gene: RPL15 was added gene: RPL15 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS26	Ivone Leong gene: RPS26 was added gene: RPS26 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS24	Ivone Leong gene: RPS24 was added gene: RPS24 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS17	Ivone Leong gene: RPS17 was added gene: RPS17 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS10	Ivone Leong gene: RPS10 was added gene: RPS10 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL35A	Ivone Leong gene: RPL35A was added gene: RPL35A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL11	Ivone Leong gene: RPL11 was added gene: RPL11 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPL5	Ivone Leong gene: RPL5 was added gene: RPL5 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	RPS19	Ivone Leong gene: RPS19 was added gene: RPS19 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SAMD9L	Ivone Leong gene: SAMD9L was added gene: SAMD9L was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SMAD9	Ivone Leong gene: SMAD9 was added gene: SMAD9 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	NFKBIA	Ivone Leong gene: NFKBIA was added gene: NFKBIA was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	CHD7	Ivone Leong gene: CHD7 was added gene: CHD7 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	KCNJ8	Ivone Leong gene: KCNJ8 was added gene: KCNJ8 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	ABCC9	Ivone Leong gene: ABCC9 was added gene: ABCC9 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PAX4	Ivone Leong gene: PAX4 was added gene: PAX4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	GATA6	Ivone Leong gene: GATA6 was added gene: GATA6 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	GATA4	Ivone Leong gene: GATA4 was added gene: GATA4 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	PDX1	Ivone Leong gene: PDX1 was added gene: PDX1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: PDX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	KCNJ11	Ivone Leong gene: KCNJ11 was added gene: KCNJ11 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	GCK	Ivone Leong gene: GCK was added gene: GCK was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	FOXA2	Ivone Leong gene: FOXA2 was added gene: FOXA2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	UCP2	Ivone Leong gene: UCP2 was added gene: UCP2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SLC16A1	Ivone Leong gene: SLC16A1 was added gene: SLC16A1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	HNF4A	Ivone Leong gene: HNF4A was added gene: HNF4A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	HNF1A	Ivone Leong gene: HNF1A was added gene: HNF1A was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	HK1	Ivone Leong gene: HK1 was added gene: HK1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	GLUD1	Ivone Leong gene: GLUD1 was added gene: GLUD1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	AKT2	Ivone Leong gene: AKT2 was added gene: AKT2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SPTLC2	Ivone Leong gene: SPTLC2 was added gene: SPTLC2 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.1	SPTLC1	Ivone Leong gene: SPTLC1 was added gene: SPTLC1 was added to NewbornFullV1. Sources: Expert Review Green Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Nov 2021	NewbornFullV1 v0.0		Ivone Leong Added Panel NewbornFullV1
10 Sep 2021	API_SignedOffVersion_L4 v0.0		Curator Test Added Panel API_SignedOffVersion_L4 Set panel types to: GMS Rare Disease
10 Sep 2021	PanelViaWebServices4 v0.2	AAAS	Curator Test Transcript for gene AAAS was changed from None to NM_000251.2
10 Sep 2021	PanelViaWebServices1 v0.6	ISCA-37423-Gain1	Curator Test Region: ISCA-37423-Gain1 was added Region: ISCA-37423-Gain1 was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory missense tags were added to Region: ISCA-37423-Gain1. Mode of inheritance for Region: ISCA-37423-Gain1 was set to MITOCHONDRIAL Publications for Region: ISCA-37423-Gain1 were set to PMD234 Phenotypes for Region: ISCA-37423-Gain1 were set to Sampepheno Penetrance for Region: ISCA-37423-Gain1 were set to Complete Review for Region: ISCA-37423-Gain1 was set to GREEN Region: ISCA-37423-Gain1 was marked as current diagnostic Added comment: Commentetst Sources: Emory Genetics Laboratory
10 Sep 2021	PanelViaWebServices1 v0.5	ISCA-37415-Loss1	Curator Test Region: ISCA-37415-Loss1 was added Region: ISCA-37415-Loss1 was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory missense tags were added to Region: ISCA-37415-Loss1. Mode of inheritance for Region: ISCA-37415-Loss1 was set to MITOCHONDRIAL Publications for Region: ISCA-37415-Loss1 were set to PMD234 Phenotypes for Region: ISCA-37415-Loss1 were set to Sampepheno Penetrance for Region: ISCA-37415-Loss1 were set to Complete Review for Region: ISCA-37415-Loss1 was set to GREEN Region: ISCA-37415-Loss1 was marked as current diagnostic Added comment: Commentetst Sources: Emory Genetics Laboratory
10 Sep 2021	PanelViaWebServices1 v0.4	HTT_CAG	Curator Test STR: HTT_CAG was added STR: HTT_CAG was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory missense tags were added to STR: HTT_CAG. Mode of inheritance for STR: HTT_CAG was set to MITOCHONDRIAL Publications for STR: HTT_CAG were set to PMD234 Phenotypes for STR: HTT_CAG were set to Sampepheno Review for STR: HTT_CAG was set to GREEN STR: HTT_CAG was marked as clinically relevant STR: HTT_CAG was marked as current diagnostic Added comment: STR added by Curator Sources: Emory Genetics Laboratory
10 Sep 2021	PanelViaWebServices1 v0.3	CNBP_CCTG	Curator Test STR: CNBP_CCTG was added STR: CNBP_CCTG was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory missense tags were added to STR: CNBP_CCTG. Mode of inheritance for STR: CNBP_CCTG was set to MITOCHONDRIAL Publications for STR: CNBP_CCTG were set to PMD234 Phenotypes for STR: CNBP_CCTG were set to Sampepheno Review for STR: CNBP_CCTG was set to GREEN STR: CNBP_CCTG was marked as clinically relevant STR: CNBP_CCTG was marked as current diagnostic Added comment: STR added by Curator Sources: Emory Genetics Laboratory
10 Sep 2021	PanelViaWebServices4 v0.1	AAAS	Curator Test gene: AAAS was added gene: AAAS was added to PanelViaWebServices4. Sources: UKGTN watchlist tags were added to gene: AAAS. Mode of inheritance for gene: AAAS was set to MITOCHONDRIAL Publications for gene: AAAS were set to 1234 Phenotypes for gene: AAAS were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly Penetrance for gene: AAAS were set to Complete Review for gene: AAAS was set to GREEN gene: AAAS was marked as current diagnostic Added comment: Gene Comment by Curator Sources: UKGTN
10 Sep 2021	PanelViaWebServices1 v0.2	RSG1	Curator Test gene: RSG1 was added gene: RSG1 was added to PanelViaWebServices1. Sources: Emory Genetics Laboratory watchlist tags were added to gene: RSG1. Mode of inheritance for gene: RSG1 was set to MITOCHONDRIAL Publications for gene: RSG1 were set to 1234 Phenotypes for gene: RSG1 were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly Penetrance for gene: RSG1 were set to Complete Review for gene: RSG1 was set to GREEN gene: RSG1 was marked as current diagnostic Added comment: Gene Comment by Curator Sources: Emory Genetics Laboratory
10 Sep 2021	PanelViaWebServices1 v0.1	HGSNAT	Curator Test gene: HGSNAT was added gene: HGSNAT was added to PanelViaWebServices1. Sources: UKGTN watchlist tags were added to gene: HGSNAT. Mode of inheritance for gene: HGSNAT was set to MITOCHONDRIAL Publications for gene: HGSNAT were set to 1234 Phenotypes for gene: HGSNAT were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly Penetrance for gene: HGSNAT were set to Complete Review for gene: HGSNAT was set to GREEN gene: HGSNAT was marked as current diagnostic Added comment: Gene Comment by Curator Sources: UKGTN
10 Sep 2021	PanelViaWebServices4 v0.0		Curator Test Added Panel PanelViaWebServices4 Set panel types to: Cancer Germline 100K
10 Sep 2021	PanelViaWebServices1 v0.0		Curator Test Added Panel PanelViaWebServices1 Set panel types to: Cancer Germline 100K
18 Aug 2021	Bleeding and platelet disorders v1.25		Eleanor Williams Panel version 1.24 has been signed off on 2021-08-18
18 Aug 2021	Bleeding and platelet disorders v1.24	ABCG5	Eleanor Williams Classified gene: ABCG5 as Amber List (moderate evidence)
18 Aug 2021	Bleeding and platelet disorders v1.24	ABCG5	Eleanor Williams Gene: abcg5 has been classified as Amber List (Moderate Evidence).
18 Aug 2021	Amyloidosis v1.14		Eleanor Williams Panel version 1.13 has been signed off on 2021-08-18
18 Aug 2021	Amyloidosis v1.13	TTR	Eleanor Williams Classified gene: TTR as Amber List (moderate evidence)
18 Aug 2021	Amyloidosis v1.13	TTR	Eleanor Williams Gene: ttr has been classified as Amber List (Moderate Evidence).
12 Aug 2021	Amyloidosis v1.12		Eleanor Williams Panel signed off version 1.10 has been removed
12 Aug 2021	Amyloidosis v1.11		Eleanor Williams Panel version 1.10 has been signed off on 2021-08-12
12 Aug 2021	Amyloidosis v1.10		Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease
12 Aug 2021	Common craniosynostosis syndromes v1.15		Eleanor Williams Panel version 1.14 has been signed off on 2021-08-12
12 Aug 2021	Common craniosynostosis syndromes v1.14	TWIST1	Eleanor Williams Classified gene: TWIST1 as Amber List (moderate evidence)
12 Aug 2021	Common craniosynostosis syndromes v1.14	TWIST1	Eleanor Williams Gene: twist1 has been classified as Amber List (Moderate Evidence).
04 Aug 2021	Albinism or congenital nystagmus v1.19		Ivone Leong List of related panels changed from R39 to R39; Albinism or congenital nystagmus Panel version 1.18 has been signed off on 2021-08-04
26 Jul 2021	Breast cancer pertinent cancer susceptibility v1.2		Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off Panel version 1.1 has been signed off on 2021-07-26
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.6		Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off Panel version 1.5 has been signed off on 2021-07-26
26 Jul 2021	Brain cancer pertinent cancer susceptibility v1.1		Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off Panel version 1.0 has been signed off on 2021-07-26
26 Jul 2021	Breast cancer pertinent cancer susceptibility v1.1	PTEN	Catherine Snow Classified gene: PTEN as Red List (low evidence)
26 Jul 2021	Breast cancer pertinent cancer susceptibility v1.1	PTEN	Catherine Snow Added comment: Comment on list classification: Comment on list classification: Rating red following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
26 Jul 2021	Breast cancer pertinent cancer susceptibility v1.1	PTEN	Catherine Snow Gene: pten has been classified as Red List (Low Evidence).
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.5	BRIP1	Catherine Snow Classified gene: BRIP1 as Green List (high evidence)
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.5	BRIP1	Catherine Snow Added comment: Comment on list classification: Rating Green following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.5	BRIP1	Catherine Snow Gene: brip1 has been classified as Green List (High Evidence).
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.4	BRIP1	Catherine Snow gene: BRIP1 was added gene: BRIP1 was added to Ovarian cancer pertinent cancer susceptibility. Sources: Expert list Mode of inheritance for gene: BRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.3	PMS2	Catherine Snow Classified gene: PMS2 as Red List (low evidence)
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.3	PMS2	Catherine Snow Added comment: Comment on list classification: Rating red following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.3	PMS2	Catherine Snow Gene: pms2 has been classified as Red List (Low Evidence).
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.2	MSH6	Catherine Snow Deleted their comment
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.2	MSH6	Catherine Snow Classified gene: MSH6 as Green List (high evidence)
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.2	MSH6	Catherine Snow Gene: msh6 has been classified as Green List (High Evidence).
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.1	MSH6	Catherine Snow Classified gene: MSH6 as Red List (low evidence)
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.1	MSH6	Catherine Snow Added comment: Comment on list classification: Rating Red by Clare Turnball (ICR) following review of cancer predisposition panels for GMS phase 2
26 Jul 2021	Ovarian cancer pertinent cancer susceptibility v1.1	MSH6	Catherine Snow Gene: msh6 has been classified as Red List (Low Evidence).
14 Jul 2021	Hereditary neuropathy NOT PMP22 copy number v1.26		Catherine Snow List of related panels changed from R78 to Hereditary neuropathy or pain disorder – NOT PMP22 copy number; R78
14 Jul 2021	White matter disorders - adult onset v1.8		Catherine Snow List of related panels changed from R62 to Adult onset leukodystrophy; R62
14 Jul 2021	Hereditary spastic paraplegia - adult onset v1.17		Catherine Snow List of related panels changed from R60 to Adult onset hereditary spastic paraplegia; R60
14 Jul 2021	Neurodegenerative disorders - adult onset v2.43		Catherine Snow List of related panels changed from R58 to Adult onset neurodegenerative disorder; R58
14 Jul 2021	Childhood onset dystonia or chorea or related movement disorder v1.84		Catherine Snow List of related panels changed from R57 to Childhood onset dystonia; chorea or related movement disorder; R57
14 Jul 2021	Adult onset movement disorder v1.71		Catherine Snow List of related panels changed from R56 to Adult onset dystonia; chorea or related movement disorder; R56
14 Jul 2021	Retinal disorders v2.173		Catherine Snow List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35 to Possible X-linked retinitis pigmentosa; Sorsby retinal dystrophy; Doyne retinal dystrophy; Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35
13 Jul 2021	Cataracts v2.67		Catherine Snow List of related panels changed from R31 to Bilateral congenital or childhood onset cataracts; R31
30 Jun 2021	Fetal anomalies v1.638		Eleanor Williams Panel version 1.637 has been signed off on 2021-06-30
30 Jun 2021	Fetal anomalies v1.637	ACE	Eleanor Williams Classified gene: ACE as Amber List (moderate evidence)
30 Jun 2021	Fetal anomalies v1.637	ACE	Eleanor Williams Added comment: Comment on list classification: demoting to amber and re signing off the panel again
30 Jun 2021	Fetal anomalies v1.637	ACE	Eleanor Williams Gene: ace has been classified as Amber List (Moderate Evidence).
29 Jun 2021	Hearing loss v2.159		Eleanor Williams Panel version 2.158 has been signed off on 2021-06-29
29 Jun 2021	Hearing loss v2.158	COCH	Eleanor Williams Classified gene: COCH as Amber List (moderate evidence)
29 Jun 2021	Hearing loss v2.158	COCH	Eleanor Williams Added comment: Comment on list classification: changing to amber as a test
29 Jun 2021	Hearing loss v2.158	COCH	Eleanor Williams Gene: coch has been classified as Amber List (Moderate Evidence).
04 Jun 2021	CuratorFeaturePanel6_L4 v0.0		Curator Test Added Panel CuratorFeaturePanel6_L4 Set panel types to: Cancer Germline 100K
04 Jun 2021	PanelForReviewer v0.0		Curator Test Added Panel PanelForReviewer Set panel types to: Cancer Germline 100K
04 Jun 2021	CuratorFeaturePanel5_L4 v0.0		Curator Test Added Panel CuratorFeaturePanel5_L4 Set panel types to: Cancer Germline 100K
04 Jun 2021	PanelForPublicUser v0.3	ISCA-37415-Loss1	Curator Test Region: ISCA-37415-Loss1 was added Region: ISCA-37415-Loss1 was added to PanelForPublicUser. Sources: Emory Genetics Laboratory missense tags were added to Region: ISCA-37415-Loss1. Mode of inheritance for Region: ISCA-37415-Loss1 was set to MITOCHONDRIAL Publications for Region: ISCA-37415-Loss1 were set to PMD234 Phenotypes for Region: ISCA-37415-Loss1 were set to Sampepheno Penetrance for Region: ISCA-37415-Loss1 were set to Complete Review for Region: ISCA-37415-Loss1 was set to GREEN Region: ISCA-37415-Loss1 was marked as current diagnostic Added comment: Commentetst Sources: Emory Genetics Laboratory
04 Jun 2021	CuratorFeaturePanel4_L4 v0.0		Curator Test Added Panel CuratorFeaturePanel4_L4 Set panel types to: Cancer Germline 100K
04 Jun 2021	PanelForPublicUser v0.2	CNBP_CCTG	Curator Test STR: CNBP_CCTG was added STR: CNBP_CCTG was added to PanelForPublicUser. Sources: Emory Genetics Laboratory missense tags were added to STR: CNBP_CCTG. Mode of inheritance for STR: CNBP_CCTG was set to MITOCHONDRIAL Publications for STR: CNBP_CCTG were set to PMD234 Phenotypes for STR: CNBP_CCTG were set to Sampepheno Review for STR: CNBP_CCTG was set to GREEN STR: CNBP_CCTG was marked as clinically relevant STR: CNBP_CCTG was marked as current diagnostic Added comment: STR added by Curator Sources: Emory Genetics Laboratory
04 Jun 2021	CuratorFeaturePanel3_L4 v0.0		Curator Test Added Panel CuratorFeaturePanel3_L4 Set panel types to: Rare Disease 100K
04 Jun 2021	PanelForEditSTR v0.1	POP1_CAG	Curator Test STR: POP1_CAG was added STR: POP1_CAG was added to PanelForEditSTR. Sources: Expert list missense tags were added to STR: POP1_CAG. Mode of inheritance for STR: POP1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: POP1_CAG were set to PMD234 Phenotypes for STR: POP1_CAG were set to Sampepheno Review for STR: POP1_CAG was set to GREEN STR: POP1_CAG was marked as clinically relevant STR: POP1_CAG was marked as current diagnostic Added comment: STR added by Curator but not added gene Sources: Expert list
04 Jun 2021	PanelForPublicUser v0.1	HGSNAT	Curator Test gene: HGSNAT was added gene: HGSNAT was added to PanelForPublicUser. Sources: UKGTN watchlist tags were added to gene: HGSNAT. Mode of inheritance for gene: HGSNAT was set to MITOCHONDRIAL Publications for gene: HGSNAT were set to 1234 Phenotypes for gene: HGSNAT were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly Penetrance for gene: HGSNAT were set to Complete Review for gene: HGSNAT was set to GREEN gene: HGSNAT was marked as current diagnostic Added comment: Gene Comment by Curator Sources: UKGTN
04 Jun 2021	CuratorFeaturePanel2_L4 v0.0		Curator Test Added Panel CuratorFeaturePanel2_L4 Set panel types to: GMS Rare Disease Virtual
04 Jun 2021	PanelForEditSTR v0.0		Curator Test Added Panel PanelForEditSTR Set panel types to: Cancer Germline 100K
04 Jun 2021	PanelForPublicUser v0.0		Curator Test Added Panel PanelForPublicUser Set panel types to: Cancer Germline 100K
06 May 2021	Aniridia v2.14	FOXC1	Eleanor Williams Mode of inheritance for gene: FOXC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
06 May 2021	Aniridia v2.13	FOXC1	Eleanor Williams Phenotypes for gene: FOXC1 were changed from Aniridia, MONDO:0019172 to Aniridia, MONDO:0019172; aniridia
06 May 2021	Aniridia v2.12	FOXC1	Eleanor Williams Tag watchlist tag was added to gene: FOXC1.
06 May 2021	Albinism or congenital nystagmus v1.18	MT-ND6	Ivone Leong Tag new-gene-name tag was added to gene: MT-ND6.
06 May 2021	Albinism or congenital nystagmus v1.18	MT-ND6	Ivone Leong Tag new-gene-name was removed from gene: MT-ND6.
06 May 2021	Albinism or congenital nystagmus v1.18	MT-ND6	Ivone Leong Tag new-gene-name tag was added to gene: MT-ND6.
06 May 2021	Albinism or congenital nystagmus v1.18	MT-ND6	Ivone Leong Tag Q2_21_rating tag was added to gene: MT-ND6.
06 May 2021	Albinism or congenital nystagmus v1.18	MT-ND6	Ivone Leong Classified gene: MT-ND6 as Amber List (moderate evidence)
06 May 2021	Albinism or congenital nystagmus v1.18	MT-ND6	Ivone Leong Added comment: Comment on list classification: TEST
06 May 2021	Albinism or congenital nystagmus v1.18	MT-ND6	Ivone Leong Gene: mt-nd6 has been classified as Amber List (Moderate Evidence).
06 May 2021	Severe microcephaly v2.103	DNA2	Arina Puzriakova Publications for gene: DNA2 were set to 24389050
23 Apr 2021	RPanel_SignedOffVersion_L4 v0.3		Curator Test Panel version 0.2 has been signed off on 2021-02-17
23 Apr 2021	RPanel_SignedOffVersion_L4 v0.2		Curator Test Panel version 0.1 has been signed off on 2021-02-16
23 Apr 2021	RPanel_SignedOffVersion_L4 v0.1		Curator Test Panel version 0.0 has been signed off on 2021-02-15
23 Apr 2021	RPanel_SignedOffVersion_L4 v0.0		Curator Test Added Panel RPanel_SignedOffVersion_L4 Set panel types to: Cancer Germline 100K
23 Apr 2021	PPanel_SignedOffVersion_L4 v0.3		Curator Test Panel version 0.2 has been signed off on 2021-02-17
23 Apr 2021	PPanel_SignedOffVersion_L4 v0.2		Curator Test Panel version 0.1 has been signed off on 2021-02-16
23 Apr 2021	PPanel_SignedOffVersion_L4 v0.1		Curator Test Panel version 0.0 has been signed off on 2021-02-15
23 Apr 2021	PPanel_SignedOffVersion_L4 v0.0		Curator Test Added Panel PPanel_SignedOffVersion_L4 Set panel types to: Cancer Germline 100K
20 Apr 2021	Adult onset movement disorder v1.70		Curator Test Panel signed off version 1.39 has been removed
20 Apr 2021	Adult onset movement disorder v1.69		Curator Test Panel version 1.39 has been signed off on 2021-04-20
20 Apr 2021	Adult onset movement disorder v1.68		Curator Test Panel signed off version 1.39 has been removed
20 Apr 2021	Adult onset movement disorder v1.67		Curator Test Panel version 1.39 has been signed off on 2021-04-20
20 Apr 2021	Adult onset movement disorder v1.66		Curator Test Panel signed off version 1.39 has been removed
20 Apr 2021	Adult onset movement disorder v1.65		Curator Test Panel version 1.39 has been signed off on 2021-04-13
20 Apr 2021	TestPanelApril2021 v0.0		Curator Test Added Panel TestPanelApril2021 Set panel types to: Cancer Germline 100K
20 Apr 2021	Adult onset movement disorder v1.64		Curator Test Panel signed off version 1.39 has been removed
18 Apr 2021	Amelogenesis imperfecta v2.9	ACP4	Eleanor Williams Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta Publications for gene: ACP4 were updated from 28513613; 27843125 to 28513613; 27843125 Transcript for gene ACP4 was changed from None to ENST00000354571.5
18 Apr 2021	TEST_OCT_2020_1 v1.0		Eleanor Williams promoted panel to version 1.0
18 Apr 2021	TEST_OCT_2020_1 v0.20	PRSS1	Eleanor Williams Marked gene: PRSS1 as ready
18 Apr 2021	TEST_OCT_2020_1 v0.20	PRSS1	Eleanor Williams Added comment: Comment when marking as ready: its ready
18 Apr 2021	TEST_OCT_2020_1 v0.20	PRSS1	Eleanor Williams Gene: prss1 has been classified as Amber List (Moderate Evidence).
18 Apr 2021	TEST_OCT_2020_1 v0.20	PRSS1	Eleanor Williams Classified gene: PRSS1 as Amber List (moderate evidence)
18 Apr 2021	TEST_OCT_2020_1 v0.20	PRSS1	Eleanor Williams Gene: prss1 has been classified as Amber List (Moderate Evidence).
18 Apr 2021	TEST_OCT_2020_1 v0.18	ACP4	Eleanor Williams gene: ACP4 was added gene: ACP4 was added to TEST_OCT_2020_1. Sources: Other Mode of inheritance for gene: ACP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2021	TEST_OCT_2020_1 v0.17	BRCA1	Reviewer Test gene: BRCA1 was added gene: BRCA1 was added to TEST_OCT_2020_1. Sources: Expert Review Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2021	TEST_OCT_2020_1 v0.17	ABAT	Reviewer Test commented on gene: ABAT
18 Apr 2021	TEST_OCT_2020_1 v0.17	ABAT	Eleanor Williams Source UKGTN was added to ABAT.
18 Apr 2021	TEST_OCT_2020_1 v0.16	ABAT	Eleanor Williams Classified gene: ABAT as Amber List (moderate evidence)
18 Apr 2021	TEST_OCT_2020_1 v0.16	ABAT	Eleanor Williams Gene: abat has been classified as Amber List (Moderate Evidence).
18 Apr 2021	TEST_OCT_2020_1 v0.15	ABAT	Eleanor Williams commented on gene: ABAT: add another comment
18 Apr 2021	TEST_OCT_2020_1 v0.15	ABAT	Eleanor Williams Tag watchlist tag was added to gene: ABAT.
18 Apr 2021	TEST_OCT_2020_1 v0.15	ISCA-37441-Loss	Eleanor Williams commented on Region: ISCA-37441-Loss
18 Apr 2021	TEST_OCT_2020_1 v0.15	ISCA-37441-Loss	Eleanor Williams Region: ISCA-37441-Loss was added Region: ISCA-37441-Loss was added to TEST_OCT_2020_1. Sources: Other Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2021	TEST_OCT_2020_1 v0.14	PRSS1	Eleanor Williams changed review comment from: add review; to: add review and change it
18 Apr 2021	TEST_OCT_2020_1 v0.14	PRSS1_CAG	Eleanor Williams commented on STR: PRSS1_CAG
18 Apr 2021	TEST_OCT_2020_1 v0.14	PRSS1	Eleanor Williams commented on gene: PRSS1
18 Apr 2021	TEST_OCT_2020_1 v0.14	PRSS1_CAG	Eleanor Williams Classified STR: PRSS1_CAG as No list
18 Apr 2021	TEST_OCT_2020_1 v0.14	PRSS1_CAG	Eleanor Williams Str: prss1_cag has been removed from the panel.
18 Apr 2021	TEST_OCT_2020_1 v0.13	PRSS1_CAG	Eleanor Williams STR: PRSS1_CAG was added STR: PRSS1_CAG was added to TEST_OCT_2020_1. Sources: Other Mode of inheritance for STR: PRSS1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2021	TEST_OCT_2020_1 v0.12	PRSS1	Eleanor Williams Classified gene: PRSS1 as No list
18 Apr 2021	TEST_OCT_2020_1 v0.12	PRSS1	Eleanor Williams Gene: prss1 has been removed from the panel.
18 Apr 2021	TEST_OCT_2020_1 v0.11	PRSS1	Eleanor Williams Phenotypes for gene: PRSS1 were changed from to Add a phenotype
18 Apr 2021	TEST_OCT_2020_1 v0.10	PRSS1	Eleanor Williams gene: PRSS1 was added gene: PRSS1 was added to TEST_OCT_2020_1. Sources: Other Mode of inheritance for gene: PRSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2021	Adult onset movement disorder v1.63		Curator Test Panel version 1.39 has been signed off on 2021-04-13
16 Apr 2021	Panel544_545 v0.12	#	Curator Test STR: # was added STR: # was added to Panel544_545. Sources: Emory Genetics Laboratory missense tags were added to STR: #. Mode of inheritance for STR: # was set to MITOCHONDRIAL Publications for STR: # were set to PMD234 Phenotypes for STR: # were set to Sampepheno Review for STR: # was set to GREEN STR: # was marked as clinically relevant STR: # was marked as current diagnostic Added comment: STR added by Curator Sources: Emory Genetics Laboratory
16 Apr 2021	Panel544_545 v0.11		Curator Test removed STR:@ from the panel
16 Apr 2021	Panel544_545 v0.10		Curator Test removed STR:# from the panel
16 Apr 2021	Panel544_545 v0.9	@	Curator Test STR: @ was added STR: @ was added to Panel544_545. Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for STR: @ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Penetrance for STR: @ were set to unknown
16 Apr 2021	Panel544_545 v0.8	#	Curator Test STR: # was added STR: # was added to Panel544_545. Sources: UKGTN Mode of inheritance for STR: # was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Apr 2021	Panel544_545 v0.7		Curator Test removed STR:# from the panel
15 Apr 2021	Adult onset movement disorder v1.62		Curator Test Panel signed off version 1.39 has been removed
15 Apr 2021	Adult onset movement disorder v1.61		Curator Test Panel version 1.39 has been signed off on 2021-04-13
15 Apr 2021	Adult onset movement disorder v1.60		Curator Test Panel signed off version 1.39 has been removed
15 Apr 2021	Adult onset movement disorder v1.59		Curator Test Panel version 1.39 has been signed off on 2021-04-13
15 Apr 2021	Adult onset movement disorder v1.58		Curator Test Panel signed off version 1.39 has been removed
15 Apr 2021	Adult onset movement disorder v1.57		Curator Test Panel version 1.39 has been signed off on 2021-04-13
15 Apr 2021	Adult onset movement disorder v1.56		Curator Test Panel signed off version 1.39 has been removed
15 Apr 2021	Adult onset movement disorder v1.55		Curator Test Panel version 1.39 has been signed off on 2021-04-13
15 Apr 2021	Adult onset movement disorder v1.54		Curator Test Panel signed off version 1.39 has been removed
15 Apr 2021	Adult onset movement disorder v1.53		Curator Test Panel version 1.39 has been signed off on 2021-04-13
15 Apr 2021	Adult onset movement disorder v1.52		Curator Test Panel signed off version 1.39 has been removed
15 Apr 2021	Adult onset movement disorder v1.51		Curator Test Panel version 1.39 has been signed off on 2021-04-13
15 Apr 2021	Panel544_545 v0.6	#	Curator Test Region: # was added Region: # was added to Panel544_545. Sources: Emory Genetics Laboratory missense tags were added to Region: #. Mode of inheritance for Region: # was set to MITOCHONDRIAL Publications for Region: # were set to PMD234 Phenotypes for Region: # were set to Sampepheno Penetrance for Region: # were set to Complete Review for Region: # was set to GREEN Region: # was marked as current diagnostic Added comment: Commentetst Sources: Emory Genetics Laboratory
15 Apr 2021	Panel544_545 v0.5	#	Curator Test STR: # was added STR: # was added to Panel544_545. Sources: Emory Genetics Laboratory missense tags were added to STR: #. Mode of inheritance for STR: # was set to MITOCHONDRIAL Publications for STR: # were set to PMD234 Phenotypes for STR: # were set to Sampepheno Review for STR: # was set to GREEN STR: # was marked as clinically relevant STR: # was marked as current diagnostic Added comment: STR added by Curator Sources: Emory Genetics Laboratory
15 Apr 2021	Adult onset movement disorder v1.50		Curator Test Panel signed off version 1.39 has been removed
15 Apr 2021	TestPanel v1.75		Eleanor Williams Panel status changed from internal to public
13 Apr 2021	Adult onset movement disorder v1.49		Curator Test Panel version 1.39 has been signed off on 2021-04-13
13 Apr 2021	Adult onset movement disorder v1.48		Curator Test Panel signed off version 1.39 has been removed
13 Apr 2021	Adult onset movement disorder v1.47		Curator Test Panel version 1.39 has been signed off on 2021-04-13
13 Apr 2021	Adult onset movement disorder v1.46		Curator Test Panel version 1.3 has been signed off on 2020-04-15
09 Apr 2021	Adult onset movement disorder v1.45		Curator Test Panel signed off version 1.3 has been removed
09 Apr 2021	Adult onset movement disorder v1.44		Curator Test Panel version 1.3 has been signed off on 2020-04-15
09 Apr 2021	TEST_OCT_2020_1 v0.9	ISCA-37390-Loss	Reviewer Test Region: ISCA-37390-Loss was added Region: ISCA-37390-Loss was added to TEST_OCT_2020_1. Sources: Other Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37390-Loss were set to 15635506 Phenotypes for Region: ISCA-37390-Loss were set to something Review for Region: ISCA-37390-Loss was set to GREEN Region: ISCA-37390-Loss was marked as current diagnostic Added comment: comment Sources: Other
09 Apr 2021	TEST_OCT_2020_1 v0.9	AGA	Eleanor Williams Classified gene: AGA as No list
09 Apr 2021	TEST_OCT_2020_1 v0.9	AGA	Eleanor Williams Gene: aga has been removed from the panel.
09 Apr 2021	TEST_OCT_2020_1 v0.8		Eleanor Williams Panel status changed from internal to public
08 Apr 2021	Adult onset movement disorder v1.43		Curator Test Panel signed off version 1.3 has been removed
08 Apr 2021	Adult onset movement disorder v1.42		Curator Test Panel version 1.3 has been signed off on 2020-04-15
08 Apr 2021	Intellectual disability v3.991	ZNF335	Catherine Snow Source Expert Review Red was added to ZNF335. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ZNF148	Catherine Snow Source Expert Review Red was added to ZNF148. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ZFP57	Catherine Snow Source Expert Review Red was added to ZFP57. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ZC3H14	Catherine Snow Source Expert Review Red was added to ZC3H14. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	XPA	Catherine Snow Source Expert Review Red was added to XPA. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	USP27X	Catherine Snow Source Expert Review Red was added to USP27X. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	UPB1	Catherine Snow Source Expert Review Red was added to UPB1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TWIST2	Catherine Snow Source Expert Review Red was added to TWIST2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TUBGCP4	Catherine Snow Source Expert Review Red was added to TUBGCP4. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TRMT1	Catherine Snow Source Expert Review Red was added to TRMT1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TRAPPC11	Catherine Snow Source Expert Review Red was added to TRAPPC11. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TMEM231	Catherine Snow Source Expert Review Red was added to TMEM231. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	THRB	Catherine Snow Source Expert Review Red was added to THRB. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TERT	Catherine Snow Source Expert Review Red was added to TERT. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TBX1	Catherine Snow Source Expert Review Red was added to TBX1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	STT3A	Catherine Snow Source Expert Review Red was added to STT3A. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	STRADA	Catherine Snow Source Expert Review Red was added to STRADA. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SRGAP3	Catherine Snow Source Expert Review Red was added to SRGAP3. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SNORD118	Catherine Snow Source Expert Review Red was added to SNORD118. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SMARCD2	Catherine Snow Source Expert Review Red was added to SMARCD2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SET	Catherine Snow Source Expert Review Red was added to SET. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	RTN4IP1	Catherine Snow Source Expert Review Red was added to RTN4IP1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PSMB8	Catherine Snow Source Expert Review Red was added to PSMB8. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PNPO	Catherine Snow Source Expert Review Red was added to PNPO. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	NUP62	Catherine Snow Source Expert Review Red was added to NUP62. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	NAGS	Catherine Snow Source Expert Review Red was added to NAGS. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	LRP5	Catherine Snow Source Expert Review Red was added to LRP5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	IL1RAPL2	Catherine Snow Source Expert Review Red was added to IL1RAPL2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	FAAH2	Catherine Snow Source Expert Review Red was added to FAAH2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	FA2H	Catherine Snow Source Expert Review Red was added to FA2H. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ERMARD	Catherine Snow Source Expert Review Red was added to ERMARD. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ERLIN2	Catherine Snow Source Expert Review Red was added to ERLIN2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	EPB41L1	Catherine Snow Source Expert Review Red was added to EPB41L1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	EEF1B2	Catherine Snow Source Expert Review Red was added to EEF1B2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DPM3	Catherine Snow Source Expert Review Red was added to DPM3. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DOCK6	Catherine Snow Source Expert Review Red was added to DOCK6. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DLG4	Catherine Snow Source Expert Review Red was added to DLG4. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DLG2	Catherine Snow Source Expert Review Red was added to DLG2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DLG1	Catherine Snow Source Expert Review Red was added to DLG1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DLAT	Catherine Snow Source Expert Review Red was added to DLAT. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DIP2B	Catherine Snow Source Expert Review Red was added to DIP2B. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DENND5A	Catherine Snow Source Expert Review Red was added to DENND5A. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DDX53	Catherine Snow Source Expert Review Red was added to DDX53. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	CYP7B1	Catherine Snow Source Expert Review Red was added to CYP7B1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	CYP27A1	Catherine Snow Source Expert Review Red was added to CYP27A1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	CRBN	Catherine Snow Source Expert Review Red was added to CRBN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ASH1L	Catherine Snow Source Expert Review Red was added to ASH1L. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ARL14EP	Catherine Snow Source Expert Review Red was added to ARL14EP. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ALX4	Catherine Snow Source Expert Review Red was added to ALX4. Mode of inheritance for gene ALX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	AKT1	Catherine Snow Source Expert Review Red was added to AKT1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ACVR1	Catherine Snow Source Expert Review Red was added to ACVR1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ZSWIM6	Catherine Snow Source Expert Review Red was added to ZSWIM6. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ZBTB18	Catherine Snow Source Expert Review Red was added to ZBTB18. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	WDR81	Catherine Snow Source Expert Review Red was added to WDR81. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	VAMP1	Catherine Snow Source Expert Review Red was added to VAMP1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	UNC80	Catherine Snow Source Expert Review Red was added to UNC80. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	UBTF	Catherine Snow Source Expert Review Red was added to UBTF. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	UBA5	Catherine Snow Source Expert Review Red was added to UBA5. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TTC37	Catherine Snow Source Expert Review Red was added to TTC37. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TRMT10A	Catherine Snow Source Expert Review Red was added to TRMT10A. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TRIT1	Catherine Snow Source Expert Review Red was added to TRIT1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TMTC3	Catherine Snow Source Expert Review Red was added to TMTC3. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TMEM240	Catherine Snow Source Expert Review Red was added to TMEM240. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	THOC6	Catherine Snow Source Expert Review Red was added to THOC6. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	THOC2	Catherine Snow Source Expert Review Red was added to THOC2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TECPR2	Catherine Snow Source Expert Review Red was added to TECPR2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TBCK	Catherine Snow Source Expert Review Red was added to TBCK. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	TAF1	Catherine Snow Source Expert Review Red was added to TAF1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SZT2	Catherine Snow Source Expert Review Red was added to SZT2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	STAG1	Catherine Snow Source Expert Review Red was added to STAG1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ST3GAL5	Catherine Snow Source Expert Review Red was added to ST3GAL5. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SPTBN2	Catherine Snow Source Expert Review Red was added to SPTBN2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SPART	Catherine Snow Source Expert Review Red was added to SPART. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SMC3	Catherine Snow Source Expert Review Red was added to SMC3. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SMAD4	Catherine Snow Source Expert Review Red was added to SMAD4. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SLC6A9	Catherine Snow Source Expert Review Red was added to SLC6A9. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SLC33A1	Catherine Snow Source Expert Review Red was added to SLC33A1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	SIN3A	Catherine Snow Source Expert Review Red was added to SIN3A. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	RERE	Catherine Snow Source Expert Review Red was added to RERE. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	RAC1	Catherine Snow Source Expert Review Red was added to RAC1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PYCR1	Catherine Snow Source Expert Review Red was added to PYCR1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PUF60	Catherine Snow Source Expert Review Red was added to PUF60. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PSMD12	Catherine Snow Source Expert Review Red was added to PSMD12. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PRUNE1	Catherine Snow Source Expert Review Red was added to PRUNE1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PRKD1	Catherine Snow Source Expert Review Red was added to PRKD1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PPP1CB	Catherine Snow Source Expert Review Red was added to PPP1CB. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PNPLA6	Catherine Snow Source Expert Review Red was added to PNPLA6. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PLPBP	Catherine Snow Source Expert Review Red was added to PLPBP. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PLAA	Catherine Snow Source Expert Review Red was added to PLAA. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PGAP1	Catherine Snow Source Expert Review Red was added to PGAP1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	PARN	Catherine Snow Source Expert Review Red was added to PARN. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	OPA3	Catherine Snow Source Expert Review Red was added to OPA3. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	NTRK1	Catherine Snow Source Expert Review Red was added to NTRK1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	KIAA0586	Catherine Snow Source Expert Review Red was added to KIAA0586. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	KCNK9	Catherine Snow Source Expert Review Red was added to KCNK9. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	KCNJ6	Catherine Snow Source Expert Review Red was added to KCNJ6. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ITPR1	Catherine Snow Source Expert Review Red was added to ITPR1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	GLIS3	Catherine Snow Source Expert Review Red was added to GLIS3. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	FGF12	Catherine Snow Source Expert Review Red was added to FGF12. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	EXTL3	Catherine Snow Source Expert Review Red was added to EXTL3. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	EMX2	Catherine Snow Source Expert Review Red was added to EMX2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	EML1	Catherine Snow Source Expert Review Red was added to EML1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ELP2	Catherine Snow Source Expert Review Red was added to ELP2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DNAJC19	Catherine Snow Source Expert Review Red was added to DNAJC19. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DHX30	Catherine Snow Source Expert Review Red was added to DHX30. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	DAG1	Catherine Snow Source Expert Review Red was added to DAG1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	D2HGDH	Catherine Snow Source Expert Review Red was added to D2HGDH. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	CRADD	Catherine Snow Source Expert Review Red was added to CRADD. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	CDK13	Catherine Snow Source Expert Review Red was added to CDK13. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	BRPF1	Catherine Snow Source Expert Review Red was added to BRPF1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ASXL2	Catherine Snow Source Expert Review Red was added to ASXL2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ASL	Catherine Snow Source Expert Review Red was added to ASL. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ARL13B	Catherine Snow Source Expert Review Red was added to ARL13B. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ARID2	Catherine Snow Source Expert Review Red was added to ARID2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	AP3B2	Catherine Snow Source Expert Review Red was added to AP3B2. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	AP3B1	Catherine Snow Source Expert Review Red was added to AP3B1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	AHI1	Catherine Snow Source Expert Review Red was added to AHI1. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ADK	Catherine Snow Source Expert Review Red was added to ADK. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Intellectual disability v3.991	ACTL6A	Catherine Snow Source Expert Review Red was added to ACTL6A. Rating Changed from Green List (high evidence) to Red List (low evidence)
08 Apr 2021	Limb disorders v2.39	FGFR1	Catherine Snow Classified gene: FGFR1 as Amber List (moderate evidence)
08 Apr 2021	Limb disorders v2.39	FGFR1	Catherine Snow Gene: fgfr1 has been classified as Amber List (Moderate Evidence).
08 Apr 2021	Intellectual disability v3.990	SBDS	Sarah Leigh Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome, 260400 to Shwachman-Bodian-Diamond syndrome, OMIM:260400
08 Apr 2021	Intellectual disability v3.989	MED27	Arina Puzriakova Classified gene: MED27 as Green List (high evidence)
08 Apr 2021	Intellectual disability v3.989	MED27	Arina Puzriakova Gene: med27 has been classified as Green List (High Evidence).
08 Apr 2021	Intellectual disability v3.989	AFF4	Eleanor Williams Mode of inheritance for gene: AFF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
08 Apr 2021	Intellectual disability v3.988	MED27	Arina Puzriakova reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: 33443317; Phenotypes: Intellectual disability, Axial hypotonia, Spasticity, Dystonia, Cerebellar hypoplasia, Cataracts, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
08 Apr 2021	Autism v0.27	SHANK3	Sarah Leigh Added comment: Comment on phenotypes: Phelan-McDermid syndrome 606232
08 Apr 2021	Autism v0.27	SHANK3	Sarah Leigh Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome, Rett syndrome-like phenotype; DD/NDD, ASD, ID, EPS to Phelan-McDermid syndrome, Rett syndrome-like phenotype; DD/NDD, ASD, ID, EPS
08 Apr 2021	Autism v0.26	CUX1	Catherine Snow Phenotypes for gene: CUX1 were changed from to autism
08 Apr 2021	Autism v0.25	RIMS2	Arina Puzriakova Classified gene: RIMS2 as Amber List (moderate evidence)
08 Apr 2021	Autism v0.25	RIMS2	Arina Puzriakova Gene: rims2 has been classified as Amber List (Moderate Evidence).
08 Apr 2021	Autism v0.25	TRIP12	Eleanor Williams Classified gene: TRIP12 as Amber List (moderate evidence)
08 Apr 2021	Autism v0.25	TRIP12	Eleanor Williams Gene: trip12 has been classified as Amber List (Moderate Evidence).
08 Apr 2021	Autism v0.24	ARID1B	Arina Puzriakova Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome; ASD, DD/NDD, EPS, ADHD, ID, EP to Autism
08 Apr 2021	Autism v0.23	SHANK3	Sarah Leigh Added comment: Comment on mode of inheritance: for test
08 Apr 2021	Autism v0.23	SHANK3	Sarah Leigh Mode of inheritance for gene: SHANK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
08 Apr 2021	Autism v0.22	ARID1B	Arina Puzriakova Publications for gene: ARID1B were set to 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
08 Apr 2021	Autism v0.21	SHANK3	Sarah Leigh reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
08 Apr 2021	Autism v0.21	ARID1B	Arina Puzriakova Publications for gene: ARID1B were set to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
08 Apr 2021	Intellectual disability v3.988	SURF1	Sarah Leigh Classified gene: SURF1 as Amber List (moderate evidence)
08 Apr 2021	Intellectual disability v3.988	SURF1	Sarah Leigh Added comment: Comment on list classification: for test
08 Apr 2021	Intellectual disability v3.988	SURF1	Sarah Leigh Gene: surf1 has been classified as Amber List (Moderate Evidence).
08 Apr 2021	Intellectual disability v3.987	SALL4	Sarah Leigh reviewed gene: SALL4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
08 Apr 2021	Intellectual disability v3.987	SALL4	Sarah Leigh Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, 607323; IVIC syndrome, 147750 to Duane-radial ray syndrome OMIM:607323; IVIC syndrome, 147750
08 Apr 2021	Intellectual disability v3.986	ABCD4	Arina Puzriakova Publications for gene: ABCD4 were set to 22922874
08 Apr 2021	Intellectual disability v3.986	CLP1	Eleanor Williams Mode of inheritance for gene: CLP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
08 Apr 2021	Intellectual disability v3.986	CLN8	Catherine Snow Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8) to Ceroid lipofuscinosis, neuronal, 8, 600143
08 Apr 2021	Intellectual disability v3.985	CLN8	Catherine Snow Publications for gene: CLN8 were set to
08 Apr 2021	Intellectual disability v3.985	SALL4	Sarah Leigh Mode of inheritance for gene: SALL4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Apr 2021	Intellectual disability v3.984	ABCD4	Arina Puzriakova Publications for gene: ABCD4 were set to
08 Apr 2021	Intellectual disability v3.983	SALL4	Sarah Leigh Classified gene: SALL4 as Amber List (moderate evidence)
08 Apr 2021	Intellectual disability v3.983	SALL4	Sarah Leigh Gene: sall4 has been classified as Amber List (Moderate Evidence).
08 Apr 2021	Intellectual disability v3.983	CRX	Catherine Snow Classified gene: CRX as Amber List (moderate evidence)
08 Apr 2021	Intellectual disability v3.983	CRX	Catherine Snow Added comment: Comment on list classification: for ttest
08 Apr 2021	Intellectual disability v3.983	CRX	Catherine Snow Gene: crx has been classified as Amber List (Moderate Evidence).
08 Apr 2021	Intellectual disability v3.983	DPM1	Eleanor Williams Classified gene: DPM1 as Amber List (moderate evidence)
08 Apr 2021	Intellectual disability v3.983	DPM1	Eleanor Williams Added comment: Comment on list classification: testing changing rating
08 Apr 2021	Intellectual disability v3.983	DPM1	Eleanor Williams Gene: dpm1 has been classified as Amber List (Moderate Evidence).
08 Apr 2021	Intellectual disability v3.983	SALL4	Sarah Leigh Classified gene: SALL4 as Amber List (moderate evidence)
08 Apr 2021	Intellectual disability v3.983	SALL4	Sarah Leigh Gene: sall4 has been classified as Amber List (Moderate Evidence).
08 Apr 2021	Intellectual disability v3.982	ABCD4	Arina Puzriakova Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type, 614857; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE; MAHCJ to Methylmalonic aciduria and homocystinuria, cblJ type, OMIM:614857
08 Apr 2021	Adult onset movement disorder v1.41		Curator Test Panel signed off version 1.3 has been removed
08 Apr 2021	Adult onset movement disorder v1.40		Curator Test Panel version 1.3 has been signed off on 2020-04-15
08 Apr 2021	Cystic renal disease v3.88		Eleanor Williams Panel version 3.87 has been signed off on 2021-04-08
08 Apr 2021	Cystic kidney disease v2.27		Eleanor Williams Panel version 2.26 has been signed off on 2021-04-08
08 Apr 2021	Cystic kidney disease v2.26	ZIC3	Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
08 Apr 2021	Cystic kidney disease v2.26	ZIC3	Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
08 Apr 2021	Cystic kidney disease v2.25	ZIC3	Eleanor Williams gene: ZIC3 was added gene: ZIC3 was added to Cystic kidney disease. Sources: Literature Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off versions Added comment: Gene added to create a signed off version with different gene content. Sources: Literature
08 Apr 2021	Sarcoma susceptibility v1.75		Eleanor Williams Panel version 1.74 has been signed off on 2021-04-08
08 Apr 2021	Sarcoma susceptibility v1.74	ZIC3	Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
08 Apr 2021	Sarcoma susceptibility v1.74	ZIC3	Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
08 Apr 2021	Sarcoma susceptibility v1.73	ZIC3	Eleanor Williams gene: ZIC3 was added gene: ZIC3 was added to Sarcoma susceptibility. Sources: Literature Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off versions Added comment: Gene added to create a signed off version with different gene content. Sources: Literature
08 Apr 2021	Adult onset movement disorder v1.39		Eleanor Williams Panel version 1.38 has been signed off on 2021-04-08
08 Apr 2021	Adult onset movement disorder v1.38	ZIC3	Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
08 Apr 2021	Adult onset movement disorder v1.38	ZIC3	Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
08 Apr 2021	Adult onset movement disorder v1.37	ZIC3	Eleanor Williams gene: ZIC3 was added gene: ZIC3 was added to Adult onset movement disorder. Sources: Literature Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off version Added comment: Gene added to create a signed off version with different gene content. Sources: Literature
06 Apr 2021	Test MOI validation panel - do not edit v1.0		Eleanor Williams promoted panel to version 1.0
06 Apr 2021	Test MOI validation panel - do not edit v0.91		Eleanor Williams Panel status changed from internal to public
06 Apr 2021	Cystic renal disease v3.84		Eleanor Williams Panel version 3.83 has been signed off on 2021-04-06
06 Apr 2021	Cystic renal disease v3.83		Eleanor Williams Panel signed off version 3.81 has been removed
06 Apr 2021	Cystic renal disease v3.82		Eleanor Williams Panel version 3.81 has been signed off on 2021-03-06
06 Apr 2021	Cystic kidney disease v2.24		Eleanor Williams Panel version 2.23 has been signed off on 2021-04-06
06 Apr 2021	Renal ciliopathies v1.41		Eleanor Williams Panel version 1.40 has been signed off on 2021-04-06
01 Apr 2021	Holoprosencephaly v2.15		Olegg Gerasimenko Panel version 2.10 has been signed off on 2021-04-01
01 Apr 2021	Adult onset movement disorder v1.36		Ivone Leong Panel version 1.25 has been signed off on 2021-03-31
01 Apr 2021	Adult onset movement disorder v1.35		Ivone Leong Panel version 1.20 has been signed off on 2021-03-31
31 Mar 2021	Panel544_545 v0.4	AMELX	Curator Test gene: AMELX was added gene: AMELX was added to Panel544_545. Sources: Emory Genetics Laboratory Mode of inheritance for gene: AMELX was set to MITOCHONDRIAL
31 Mar 2021	Panel544_545 v0.3		Curator Test Panel version 0.2 has been signed off on 2021-03-30
31 Mar 2021	Panel544_545 v0.2		Curator Test Panel version 0.1 has been signed off on 2021-03-30
31 Mar 2021	Panel544_545 v0.1		Curator Test Panel version 0.0 has been signed off on 2021-03-30
31 Mar 2021	Panel544_545 v0.0		Curator Test Added Panel Panel544_545 Set panel types to: Cancer Germline 100K
29 Mar 2021	Growth failure in early childhood TEST v0.2	TRIM37	Ivone Leong reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mulibrey nanism; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	SRCAP	Ivone Leong reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Floating Harbor; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	PLAG1	Ivone Leong reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	PIK3R1	Ivone Leong reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	PCNT	Ivone Leong reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOPDII; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	ORC6	Ivone Leong reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	ORC4	Ivone Leong reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	ORC1	Ivone Leong reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	OBSL1	Ivone Leong reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	NBN	Ivone Leong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	IGF2	Ivone Leong reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	IGF1R	Ivone Leong reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 15q-Del; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	IGF1	Ivone Leong reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: IGF1; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	HRAS	Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	HMGA2	Ivone Leong reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	CUL7	Ivone Leong reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	COL1A1	Ivone Leong reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OI; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	CDT1	Ivone Leong reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	CDKN1C	Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS/BWS; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	CDC6	Ivone Leong reviewed gene: CDC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	CCDC8	Ivone Leong reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	BLM	Ivone Leong reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	ANKRD11	Ivone Leong reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: KBG; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.2	ACAN	Ivone Leong reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
29 Mar 2021	Growth failure in early childhood TEST v0.1	TRIM37	Ivone Leong gene: TRIM37 was added gene: TRIM37 was added to Growth failure in early childhood TEST. Sources: Expert Review Red Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to Mulibrey nanism
29 Mar 2021	Growth failure in early childhood TEST v0.1	SRCAP	Ivone Leong gene: SRCAP was added gene: SRCAP was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SRCAP were set to Floating Harbor
29 Mar 2021	Growth failure in early childhood TEST v0.1	PLAG1	Ivone Leong gene: PLAG1 was added gene: PLAG1 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: PLAG1 was set to Phenotypes for gene: PLAG1 were set to SRS
29 Mar 2021	Growth failure in early childhood TEST v0.1	PIK3R1	Ivone Leong gene: PIK3R1 was added gene: PIK3R1 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3R1 were set to SHORT
29 Mar 2021	Growth failure in early childhood TEST v0.1	PCNT	Ivone Leong gene: PCNT was added gene: PCNT was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCNT were set to MOPDII
29 Mar 2021	Growth failure in early childhood TEST v0.1	ORC6	Ivone Leong gene: ORC6 was added gene: ORC6 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC6 were set to Meier-Gorlin
29 Mar 2021	Growth failure in early childhood TEST v0.1	ORC4	Ivone Leong gene: ORC4 was added gene: ORC4 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC4 were set to Meier-Gorlin
29 Mar 2021	Growth failure in early childhood TEST v0.1	ORC1	Ivone Leong gene: ORC1 was added gene: ORC1 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC1 were set to Meier-Gorlin
29 Mar 2021	Growth failure in early childhood TEST v0.1	OBSL1	Ivone Leong gene: OBSL1 was added gene: OBSL1 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OBSL1 were set to 3M
29 Mar 2021	Growth failure in early childhood TEST v0.1	NBN	Ivone Leong gene: NBN was added gene: NBN was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to Nijmegen
29 Mar 2021	Growth failure in early childhood TEST v0.1	IGF2	Ivone Leong gene: IGF2 was added gene: IGF2 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: IGF2 were set to SRS
29 Mar 2021	Growth failure in early childhood TEST v0.1	IGF1R	Ivone Leong gene: IGF1R was added gene: IGF1R was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IGF1R were set to 15q-Del
29 Mar 2021	Growth failure in early childhood TEST v0.1	IGF1	Ivone Leong gene: IGF1 was added gene: IGF1 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1 were set to IGF1
29 Mar 2021	Growth failure in early childhood TEST v0.1	HRAS	Ivone Leong gene: HRAS was added gene: HRAS was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Costello
29 Mar 2021	Growth failure in early childhood TEST v0.1	HMGA2	Ivone Leong gene: HMGA2 was added gene: HMGA2 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: HMGA2 was set to Phenotypes for gene: HMGA2 were set to SRS
29 Mar 2021	Growth failure in early childhood TEST v0.1	CUL7	Ivone Leong gene: CUL7 was added gene: CUL7 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3M
29 Mar 2021	Growth failure in early childhood TEST v0.1	COL1A1	Ivone Leong gene: COL1A1 was added gene: COL1A1 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL1A1 were set to OI; Osteogenesis imperfecta, type III, 259420; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type I, 166200
29 Mar 2021	Growth failure in early childhood TEST v0.1	CDT1	Ivone Leong gene: CDT1 was added gene: CDT1 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDT1 were set to Meier-Gorlin
29 Mar 2021	Growth failure in early childhood TEST v0.1	CDKN1C	Ivone Leong gene: CDKN1C was added gene: CDKN1C was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: CDKN1C were set to SRS/BWS; Beckwith-Wiedemann syndrome, 130650
29 Mar 2021	Growth failure in early childhood TEST v0.1	CDC6	Ivone Leong gene: CDC6 was added gene: CDC6 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC6 were set to ?Meier-Gorlin syndrome 5, 613805
29 Mar 2021	Growth failure in early childhood TEST v0.1	CCDC8	Ivone Leong gene: CCDC8 was added gene: CCDC8 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC8 were set to 3M
29 Mar 2021	Growth failure in early childhood TEST v0.1	BLM	Ivone Leong gene: BLM was added gene: BLM was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Bloom
29 Mar 2021	Growth failure in early childhood TEST v0.1	ANKRD11	Ivone Leong gene: ANKRD11 was added gene: ANKRD11 was added to Growth failure in early childhood TEST. Sources: NHS GMS Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD11 were set to KBG
29 Mar 2021	Growth failure in early childhood TEST v0.1	ACAN	Ivone Leong gene: ACAN was added gene: ACAN was added to Growth failure in early childhood TEST. Sources: Expert Review Green Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACAN were set to ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361; Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800
29 Mar 2021	Growth failure in early childhood TEST v0.0		Ivone Leong Added Panel Growth failure in early childhood TEST
29 Mar 2021	Superpanel_TEST v2.20		Ivone Leong Panel version 2.5 has been signed off on 2021-03-28
29 Mar 2021	Superpanel_TEST v2.19		Ivone Leong Panel version 2.15 has been signed off on 2021-03-29
29 Mar 2021	Short QT syndrome v2.13	ALG10	Ivone Leong Classified gene: ALG10 as Red List (low evidence)
29 Mar 2021	Short QT syndrome v2.13	ALG10	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Short QT syndrome v2.13	ALG10	Ivone Leong Gene: alg10 has been classified as Red List (Low Evidence).
29 Mar 2021	Short QT syndrome v2.12	ALG10	Ivone Leong Classified gene: ALG10 as Amber List (moderate evidence)
29 Mar 2021	Short QT syndrome v2.12	ALG10	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Short QT syndrome v2.12	ALG10	Ivone Leong Gene: alg10 has been classified as Amber List (Moderate Evidence).
29 Mar 2021	Short QT syndrome v2.11	AKAP9	Ivone Leong Classified gene: AKAP9 as Red List (low evidence)
29 Mar 2021	Short QT syndrome v2.11	AKAP9	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Short QT syndrome v2.11	AKAP9	Ivone Leong Gene: akap9 has been classified as Red List (Low Evidence).
29 Mar 2021	Short QT syndrome v2.10	AKAP9	Ivone Leong Classified gene: AKAP9 as Amber List (moderate evidence)
29 Mar 2021	Short QT syndrome v2.10	AKAP9	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Short QT syndrome v2.10	AKAP9	Ivone Leong Gene: akap9 has been classified as Amber List (Moderate Evidence).
29 Mar 2021	Short QT syndrome v2.9	ABCC9	Ivone Leong Classified gene: ABCC9 as Red List (low evidence)
29 Mar 2021	Short QT syndrome v2.9	ABCC9	Ivone Leong Gene: abcc9 has been classified as Red List (Low Evidence).
29 Mar 2021	Short QT syndrome v2.8	ABCC9	Ivone Leong Classified gene: ABCC9 as Amber List (moderate evidence)
29 Mar 2021	Short QT syndrome v2.8	ABCC9	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Short QT syndrome v2.8	ABCC9	Ivone Leong Gene: abcc9 has been classified as Amber List (Moderate Evidence).
29 Mar 2021	Superpanel_TEST v2.12		Ivone Leong Panel version 2.11 has been signed off on 2021-03-29
29 Mar 2021	Catecholaminergic polymorphic VT v2.22	KCNE1	Ivone Leong Classified gene: KCNE1 as Red List (low evidence)
29 Mar 2021	Catecholaminergic polymorphic VT v2.22	KCNE1	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Catecholaminergic polymorphic VT v2.22	KCNE1	Ivone Leong Gene: kcne1 has been classified as Red List (Low Evidence).
29 Mar 2021	Catecholaminergic polymorphic VT v2.21	KCNE1	Ivone Leong Classified gene: KCNE1 as Amber List (moderate evidence)
29 Mar 2021	Catecholaminergic polymorphic VT v2.21	KCNE1	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Catecholaminergic polymorphic VT v2.21	KCNE1	Ivone Leong Gene: kcne1 has been classified as Amber List (Moderate Evidence).
29 Mar 2021	Long QT syndrome v2.28	KCNE3	Ivone Leong Classified gene: KCNE3 as Red List (low evidence)
29 Mar 2021	Long QT syndrome v2.28	KCNE3	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Long QT syndrome v2.28	KCNE3	Ivone Leong Gene: kcne3 has been classified as Red List (Low Evidence).
29 Mar 2021	Long QT syndrome v2.27	KCNE3	Ivone Leong Classified gene: KCNE3 as Amber List (moderate evidence)
29 Mar 2021	Long QT syndrome v2.27	KCNE3	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Long QT syndrome v2.27	KCNE3	Ivone Leong Gene: kcne3 has been classified as Amber List (Moderate Evidence).
29 Mar 2021	Long QT syndrome v2.26	CAV3	Ivone Leong Classified gene: CAV3 as Red List (low evidence)
29 Mar 2021	Long QT syndrome v2.26	CAV3	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Long QT syndrome v2.26	CAV3	Ivone Leong Gene: cav3 has been classified as Red List (Low Evidence).
29 Mar 2021	Long QT syndrome v2.25	CAV3	Ivone Leong Classified gene: CAV3 as Amber List (moderate evidence)
29 Mar 2021	Long QT syndrome v2.25	CAV3	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Long QT syndrome v2.25	CAV3	Ivone Leong Gene: cav3 has been classified as Amber List (Moderate Evidence).
29 Mar 2021	Long QT syndrome v2.24	AKAP9	Ivone Leong Classified gene: AKAP9 as Red List (low evidence)
29 Mar 2021	Long QT syndrome v2.24	AKAP9	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Long QT syndrome v2.24	AKAP9	Ivone Leong Gene: akap9 has been classified as Red List (Low Evidence).
29 Mar 2021	Catecholaminergic polymorphic VT v2.20	ANK2	Ivone Leong Classified gene: ANK2 as Red List (low evidence)
29 Mar 2021	Catecholaminergic polymorphic VT v2.20	ANK2	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Catecholaminergic polymorphic VT v2.20	ANK2	Ivone Leong Gene: ank2 has been classified as Red List (Low Evidence).
29 Mar 2021	Catecholaminergic polymorphic VT v2.19	ANK2	Ivone Leong Classified gene: ANK2 as Amber List (moderate evidence)
29 Mar 2021	Catecholaminergic polymorphic VT v2.19	ANK2	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Catecholaminergic polymorphic VT v2.19	ANK2	Ivone Leong Gene: ank2 has been classified as Amber List (Moderate Evidence).
29 Mar 2021	Superpanel_TEST v2.2		Ivone Leong Panel version 2.1 has been signed off on 2021-03-01
29 Mar 2021	Long QT syndrome v2.23	AKAP9	Ivone Leong Classified gene: AKAP9 as Amber List (moderate evidence)
29 Mar 2021	Long QT syndrome v2.23	AKAP9	Ivone Leong Added comment: Comment on list classification: TEST
29 Mar 2021	Long QT syndrome v2.23	AKAP9	Ivone Leong Gene: akap9 has been classified as Amber List (Moderate Evidence).
29 Mar 2021	Long QT syndrome v2.22	ALG10	Ivone Leong Tag deletions tag was added to gene: ALG10.
29 Mar 2021	Long QT syndrome v2.22	TECRL	Ivone Leong Tag treatable tag was added to gene: TECRL.
29 Mar 2021	Superpanel_TEST v2.0		Ivone Leong Added Panel Superpanel_TEST Set child panels to: Long QT syndrome; Catecholaminergic polymorphic VT; Short QT syndrome Set panel types to: GMS Rare Disease Virtual
29 Mar 2021	Sarcoma susceptibility v1.72		Ivone Leong Panel version 1.11 has been signed off on 2021-03-17
29 Mar 2021	Cardiac arrhythmias - additional genes v1.12		Ivone Leong Panel version 1.9 has been signed off on 2021-03-28
29 Mar 2021	Sarcoma susceptibility v1.71		Ivone Leong Panel version 1.60 has been signed off on 2021-03-28
29 Mar 2021	Sarcoma susceptibility v1.70		Ivone Leong Panel version 1.4 has been signed off on 2021-03-01
25 Mar 2021	Hereditary neuropathy NOT PMP22 copy number v1.25	DHX9	Arina Puzriakova Classified gene: DHX9 as Red List (low evidence)
25 Mar 2021	Hereditary neuropathy NOT PMP22 copy number v1.25	DHX9	Arina Puzriakova Added comment: Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.
25 Mar 2021	Hereditary neuropathy NOT PMP22 copy number v1.25	DHX9	Arina Puzriakova Gene: dhx9 has been classified as Red List (Low Evidence).
25 Mar 2021	Hereditary neuropathy NOT PMP22 copy number v1.24	DHX9	Arina Puzriakova gene: DHX9 was added gene: DHX9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Other watchlist tags were added to gene: DHX9. Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHX9 were set to Adult-onset axonal neuropathy Added comment: Conference poster (Genomics of Rare Disease 2021) - 'DExH-box helicase 9 (DHX9) is a candidate hereditary axonal neuropathy gene' by Fatih et al, Baylor College of Medicine - Report three unrelated individuals with adult-onset axonal neuropathy (age of onset: 41, 49, and 12 years old, respectively). Clinical features include limb weakness (3), muscle atrophy (2), diminished sensation in feet (2; plus in hands in 1 individual), ataxic gait (1), and painful neuropathy (1). All subjects exhibited neurogenic changes on EMG, and 2 cases also had normal or absent motor and sensory NCV. Exome sequencing revealed distinct heterozygous variants in the DHX9 gene ([c.2537A>G, p.Asp846Gly]; [c.2510G>C, p.Arg837Thr]; [c.3763G>A, p.Ala1255Thr]). Segregation data was only available for one case, showing de novo occurrence. No functional data presented. These variants have to be validated and currently DHX9 is deemed a candidate gene. No other publications in relation to this gene and phenotype are available in PubMed at this time. Baylor College of Medicine POC: Dr. Daniel Calame, [email protected] Sources: Other
25 Mar 2021	Thrombophilia v1.18	PROZ	Arina Puzriakova Phenotypes for gene: PROZ were changed from 614024 Protein Z deficiency to Protein Z deficiency, OMIM:614024
25 Mar 2021	Thrombophilia v1.17	PROCR	Arina Puzriakova Publications for gene: PROCR were set to
25 Mar 2021	Thrombophilia v1.16	PLAT	Arina Puzriakova Phenotypes for gene: PLAT were changed from 612348 Thrombophilia, due to decreased release of PLAT; 612348 Thrombophilia, familial, due to decreased release of PLAT to Thrombophilia, familial, due to decreased release of PLAT, OMIM:612348
25 Mar 2021	Thrombophilia v1.15	THBD	Arina Puzriakova Phenotypes for gene: THBD were changed from 614486 Thrombophilia due to thrombomodulin defect to Thrombophilia due to thrombomodulin defect, OMIM:614486
25 Mar 2021	Thrombophilia v1.14	SERPIND1	Arina Puzriakova Phenotypes for gene: SERPIND1 were changed from 612356 Thrombophilia due to heparin cofactor II deficiency to Thrombophilia due to heparin cofactor II deficiency, OMIM:612356
25 Mar 2021	Thrombophilia v1.13	SERPINC1	Arina Puzriakova Phenotypes for gene: SERPINC1 were changed from 613118 Thrombophilia due to antithrombin III deficiency to Thrombophilia due to antithrombin III deficiency, OMIM:613118
25 Mar 2021	Thrombophilia v1.12	PROS1	Arina Puzriakova Phenotypes for gene: PROS1 were changed from 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive to Thrombophilia due to protein S deficiency, autosomal dominant, OMIM:612336; Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514
24 Mar 2021	Adult onset movement disorder v1.34	C19orf12	Sarah Leigh Added comment: Comment on phenotypes: neurodegeneration with brain iron accumulation-4;mitochondrial membrane protein-associated neurodegeneration;Dystonia
24 Mar 2021	Adult onset movement disorder v1.34	C19orf12	Sarah Leigh Phenotypes for gene: C19orf12 were changed from neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia to ?Spastic paraplegia 43, autosomal recessive OMIM:615043; hereditary spastic paraplegia 43 MONDO:0014024; Neurodegeneration with brain iron accumulation 4 OMIM:614298; neurodegeneration with brain iron accumulation 4 MONDO:0013674
24 Mar 2021	Adult onset movement disorder v1.33	ATP7B	Sarah Leigh Phenotypes for gene: ATP7B were changed from Wilson disease 277900; Dystonia to Wilson disease OMIM:277900; Wilson disease MONDO:0010200
24 Mar 2021	Adult onset movement disorder v1.32	ATP1A3	Sarah Leigh Phenotypes for gene: ATP1A3 were changed from CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12 to Alternating hemiplegia of childhood 2 OMIM:614820; alternating hemiplegia of childhood 2 MONDO:0013900; CAPOS syndrome OMIM:601338; cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038; Dystonia-12 OMIM:128235; dystonia 12 MONDO:0007496
24 Mar 2021	Adult onset movement disorder v1.31	ATP1A2	Sarah Leigh Phenotypes for gene: ATP1A2 were changed from familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 to familial basilar migraine OMIM:602481; familial hemiplegic migraine type 2 OMIM:602481; migraine, familial hemiplegic, 2 MONDO:0011232; alternating hemiplegia of childhood OMIM:104290; alternating hemiplegia of childhood 1 MONDO:0007087
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.30	KLB	Ivone Leong Classified gene: KLB as Amber List (moderate evidence)
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.30	KLB	Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene is Green on the Hypogonadotropic hypogonadism (Version 1.29) panel and have the following review: "Rachel Jones (GSTT) Green List (high evidence) Publication by Pitteloud et al: "Genetic screening of 334 CHH patients identified seven heterozygous loss‐of‐function KLB mutations in 13 patients (4%). Most patients with KLB mutations (9/13) exhibited metabolic defects. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21." They also included functional analysis and showed decreased activity in response to FGF21 and FGF8 KLB is an obligate coreceptor for FGF21 alongside FGFR1 Created: 10 Mar 2020, 10:55 a.m. | Last Modified: 10 Mar 2020, 10:55 a.m. Panel Version: 1.27 Mode of inheritance MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes hypogonadotrophic hypogonadism Publications PMID: 28754744 Created: 10 Mar 2020, 10:55 a.m. Last Modified: 10 Mar 2020, 10:55 a.m. Panel version: 1.27" There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.30	KLB	Ivone Leong Gene: klb has been classified as Amber List (Moderate Evidence).
24 Mar 2021	Adult onset movement disorder v1.30	ATP13A2	Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome to Kufor-Rakeb Syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.29	KLB	Ivone Leong Tag Q2_21_rating tag was added to gene: KLB.
24 Mar 2021	Adult onset movement disorder v1.29	ATM	Sarah Leigh Phenotypes for gene: ATM were changed from Ataxia-telangiectasia OMIM:208900 to Ataxia-telangiectasia OMIM:208900; ataxia telangiectasia MONDO:0008840
24 Mar 2021	Adult onset movement disorder v1.28	ATM	Sarah Leigh Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Ataxia-telangiectasia OMIM:208900
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.29	KLB	Ivone Leong Publications for gene: KLB were set to
24 Mar 2021	Adult onset movement disorder v1.27	APTX	Sarah Leigh Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920; ataxia with oculomotor apraxia type 1 MONDO:0008842
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.28	SOX10	Ivone Leong Phenotypes for gene: SOX10 were changed from Waardenburg syndrome type 4C (OMIM 611584) to Waardenburg syndrome type 4C, OMIM:611584; Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584; congenital hypogonadotropic hypogonadism, MONDO:0015770
24 Mar 2021	Adult onset movement disorder v1.26	APTX	Sarah Leigh Phenotypes for gene: APTX were changed from Dystonia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920
24 Mar 2021	Adult onset movement disorder v1.25	ANO3	Sarah Leigh Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.27	SOX10	Ivone Leong Classified gene: SOX10 as Amber List (moderate evidence)
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.27	SOX10	Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases of SOX10 variants found in patients with Kallman syndrome. PMID: 33597923 and 33082981 describe 2 patients (Chinese and Japanese) with variants in SOX10 who has Waardenburg syndrome and Kallmann syndrome. Therefore, this gene should be Green on this panel.
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.27	SOX10	Ivone Leong Gene: sox10 has been classified as Amber List (Moderate Evidence).
24 Mar 2021	Adult onset movement disorder v1.24	ANO3	Sarah Leigh Added comment: Comment on publications: 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor;24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis
24 Mar 2021	Adult onset movement disorder v1.24	ANO3	Sarah Leigh Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
24 Mar 2021	Adult onset movement disorder v1.23	ANO3	Sarah Leigh Phenotypes for gene: ANO3 were changed from familial form of cranio-cervical dystonia; Dystonia 24, 615034 to Dystonia 24 OMIM:615034; dystonia 24 MONDO:0014019
24 Mar 2021	Adult onset movement disorder v1.22	AFG3L2	Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Dystonia; Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.26	SOX10	Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.25	SOX10	Ivone Leong Tag Q2_21_rating tag was added to gene: SOX10.
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.25	SOX10	Ivone Leong Added comment: Comment on publications: More publications (30914325; 26228106; 24769923; 33082981) showing SOX10 variants found in patients affected by Kallman syndrome.
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.25	SOX10	Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.24	NSMF	Ivone Leong Classified gene: NSMF as Red List (low evidence)
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.24	NSMF	Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red as per my previous comment.
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.24	NSMF	Ivone Leong Gene: nsmf has been classified as Red List (Low Evidence).
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.23	NSMF	Ivone Leong Publications for gene: NSMF were set to 15362570; 17235395; 21700882
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.22	NSMF	Ivone Leong reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: 27803842; Phenotypes: ; Mode of inheritance: None
24 Mar 2021	Adult onset movement disorder v1.21	ACTB	Sarah Leigh Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, OMIM:607371; developmental malformations-deafness-dystonia syndrome MONDO:0011823; Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
24 Mar 2021	Lysosomal storage disorder v1.70	VPS33A	Sarah Leigh edited their review of gene: VPS33A: Added comment: This gene has been tagged with: "Q2_21_expert_review" in order to seek the opinion of NHS experts on this gene, which has a founder variant together with supportive functional studies.; Changed rating: GREEN
24 Mar 2021	Lysosomal storage disorder v1.70	VPS33A	Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian poputation. Supportive functional studies were also presented (PMID 31070736).
24 Mar 2021	Lysosomal storage disorder v1.70	VPS33A	Sarah Leigh Tag Q2_21_expert_review tag was added to gene: VPS33A.
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.22	SOX10	Ivone Leong Publications for gene: SOX10 were set to
24 Mar 2021	Undiagnosed metabolic disorders v1.449	GNE	Sarah Leigh Phenotypes for gene: GNE were changed from UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders); Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
24 Mar 2021	Inborn errors of metabolism v2.103	GNE	Sarah Leigh Added comment: Comment on phenotypes: Nonaka myopathy 605820;Sialuria (Other lysosomal disorders);UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
24 Mar 2021	Inborn errors of metabolism v2.103	GNE	Sarah Leigh Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Sialuria (Other lysosomal disorders); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
24 Mar 2021	Lysosomal storage disorder v1.70	GNE	Sarah Leigh Publications for gene: GNE were set to
24 Mar 2021	Undiagnosed metabolic disorders v1.448	GNE	Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Mar 2021	Inborn errors of metabolism v2.102	GNE	Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Mar 2021	Inborn errors of metabolism v2.102	GNE	Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
24 Mar 2021	Inborn errors of metabolism v2.101	GNE	Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
24 Mar 2021	Lysosomal storage disorder v1.69	GNE	Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Mar 2021	Lysosomal storage disorder v1.69	GNE	Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
24 Mar 2021	Lysosomal storage disorder v1.68	GNE	Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
24 Mar 2021	Genetic epilepsy syndromes v2.307	SLC7A6OS	Sarah Leigh Added comment: Comment on phenotypes: Based on the phenotypic spectrum reported in PMID 33085104, this gene may be suitable for additional panels.
24 Mar 2021	Genetic epilepsy syndromes v2.307	SLC7A6OS	Sarah Leigh Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12 OMIM:619191
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.21	NSMF	Ivone Leong Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism type 9 (OMIM 614838) to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
24 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.20	NSMF	Ivone Leong Publications for gene: NSMF were set to
24 Mar 2021	Genetic epilepsy syndromes v2.306	SLC7A6OS	Sarah Leigh changed review comment from: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two familes, shown to share common ancestors by haplotype analysis (PMID 33085104).; to: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two families, shown to share common ancestors by haplotype analysis (PMID 33085104).
24 Mar 2021	Rare genetic inflammatory skin disorders v1.38	ADAMTS2	Ivone Leong Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
24 Mar 2021	Rare genetic inflammatory skin disorders v1.37	ABCC6	Ivone Leong Phenotypes for gene: ABCC6 were changed from PSEUDOXANTHOMA ELASTICUM; PXE to PSEUDOXANTHOMA ELASTICUM, OMIM:264800; Pseudoxanthoma elasticum, forme fruste, OMIM:177850
24 Mar 2021	Rare genetic inflammatory skin disorders v1.36	TREX1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Chillblain lupus;AGS1, CHILBLAIN LUPUS 1;Aicardi-Goutieres syndrome;AICARDI-GOUTIERES SYNDROME 1;CHBL1
24 Mar 2021	Rare genetic inflammatory skin disorders v1.36	TREX1	Ivone Leong Phenotypes for gene: TREX1 were changed from Chillblain lupus; AGS1, CHILBLAIN LUPUS 1; Aicardi-Goutieres syndrome; AICARDI-GOUTIERES SYNDROME 1; CHBL1 to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Chilblain lupus, OMIM:610448
24 Mar 2021	Rare genetic inflammatory skin disorders v1.35	TMEM173	Ivone Leong Phenotypes for gene: TMEM173 were changed from SAVI; STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; STING-associated vasculopathy to STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934
24 Mar 2021	Rare genetic inflammatory skin disorders v1.34	STAT3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: HyperIgE syndrome;ADMIO1;HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1;HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
24 Mar 2021	Rare genetic inflammatory skin disorders v1.34	STAT3	Ivone Leong Phenotypes for gene: STAT3 were changed from HyperIgE syndrome; ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT to Hyper-IgE recurrent infection syndrome, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
24 Mar 2021	Rare genetic inflammatory skin disorders v1.33	SLC39A4	Ivone Leong Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica; ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ to Acrodermatitis enteropathica, OMIM:201100
24 Mar 2021	Rare genetic inflammatory skin disorders v1.32	SH3PXD2B	Ivone Leong Phenotypes for gene: SH3PXD2B were changed from Borrone dermato-cardio-skeletal syndrome; FTHS; FRANK-TER HAAR SYNDROME to FRANK-TER HAAR SYNDROME, OMIM:249420
24 Mar 2021	Rare genetic inflammatory skin disorders v1.31	SAMHD1	Ivone Leong Phenotypes for gene: SAMHD1 were changed from Chillblain lupus; Aicardi-Goutieres syndrome; AGS5, CHILBLAIN LUPUS 2; AICARDI-GOUTIERES SYNDROME 5; CHBL2 to ?Chilblain lupus 2, OMIM:614415; AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
24 Mar 2021	Rare genetic inflammatory skin disorders v1.30	RAG2	Ivone Leong Phenotypes for gene: RAG2 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
24 Mar 2021	Rare genetic inflammatory skin disorders v1.29	RAG1	Ivone Leong Phenotypes for gene: RAG1 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
24 Mar 2021	Rare genetic inflammatory skin disorders v1.28	PSENEN	Ivone Leong Phenotypes for gene: PSENEN were changed from ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736
24 Mar 2021	Rare genetic inflammatory skin disorders v1.27	OSMR	Ivone Leong Phenotypes for gene: OSMR were changed from Amyloidosis cutis; PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250
24 Mar 2021	Rare genetic inflammatory skin disorders v1.26	NSDHL	Ivone Leong Phenotypes for gene: NSDHL were changed from CHILD syndrome; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS to CHILD syndrome, OMIM:308050
24 Mar 2021	Rare genetic inflammatory skin disorders v1.25	NOD2	Ivone Leong Phenotypes for gene: NOD2 were changed from Blau syndrome; BLAU SYNDROME; BLAUS to Blau syndrome, OMIM:186580
24 Mar 2021	Rare genetic inflammatory skin disorders v1.24	NLRP3	Ivone Leong Phenotypes for gene: NLRP3 were changed from CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME; FCAS1 to CINCA SYNDROME, OMIM:607115
24 Mar 2021	Rare genetic inflammatory skin disorders v1.23	NCSTN	Ivone Leong Phenotypes for gene: NCSTN were changed from ACNINV1; ACNE INVERSA, FAMILIAL, 1 to ACNE INVERSA, FAMILIAL, 1, OMIM:142690
24 Mar 2021	Rare genetic inflammatory skin disorders v1.22	MVD	Ivone Leong Phenotypes for gene: MVD were changed from POROKERATOSIS 7, MULTIPLE TYPES; POROK7 to POROKERATOSIS 7, MULTIPLE TYPES, OMIM:614714
24 Mar 2021	Rare genetic inflammatory skin disorders v1.21	KIT	Ivone Leong Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS; Mast cell disease; Piebaldism; MASTC to MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800
24 Mar 2021	Rare genetic inflammatory skin disorders v1.20	IL36RN	Ivone Leong Phenotypes for gene: IL36RN were changed from PSORS14; PSORIASIS 14, PUSTULAR; Recurrent pustular psoriasis to PSORIASIS 14, PUSTULAR, OMIM:614204
24 Mar 2021	Rare genetic inflammatory skin disorders v1.19	IL1RN	Ivone Leong Phenotypes for gene: IL1RN were changed from OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP; Recurrent pustular psoriasis to OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMIM:612852
24 Mar 2021	Rare genetic inflammatory skin disorders v1.18	GJB4	Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
24 Mar 2021	Rare genetic inflammatory skin disorders v1.17	GJB3	Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratodermia variabilis et progressiva 1; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
24 Mar 2021	Rare genetic inflammatory skin disorders v1.16	GJA1	Ivone Leong Phenotypes for gene: GJA1 were changed from PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, OMIM:617525
24 Mar 2021	Rare genetic inflammatory skin disorders v1.15	FDPS	Ivone Leong Phenotypes for gene: FDPS were changed from POROKERATOSIS 9, MULTIPLE TYPES to POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631
24 Mar 2021	Rare genetic inflammatory skin disorders v1.14	EGFR	Ivone Leong Phenotypes for gene: EGFR were changed from NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 to INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MONDO:0014481
24 Mar 2021	Rare genetic inflammatory skin disorders v1.13	DOCK8	Ivone Leong Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive to Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700
24 Mar 2021	Rare genetic inflammatory skin disorders v1.12	CARD9	Ivone Leong Phenotypes for gene: CARD9 were changed from Deep dermatophytosis to Deep dermatophytosis, MONDO:0018335
24 Mar 2021	Rare genetic inflammatory skin disorders v1.11	CARD14	Ivone Leong Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris; susceptibility to psoriasis to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723
24 Mar 2021	Rare genetic inflammatory skin disorders v1.10	CARD11	Ivone Leong Phenotypes for gene: CARD11 were changed from Immunodeficiency 11B with atopic dermatitis to Immunodeficiency 11B with atopic dermatitis, OMIM:617638
24 Mar 2021	Rare genetic inflammatory skin disorders v1.9	AIRE	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA;APS1
24 Mar 2021	Rare genetic inflammatory skin disorders v1.9	AIRE	Ivone Leong Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
24 Mar 2021	Rare genetic inflammatory skin disorders v1.8	ADA2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: VAIHS (Polyarteritis nodosa);Polyarteritis nodosa;VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
24 Mar 2021	Rare genetic inflammatory skin disorders v1.8	ADA2	Ivone Leong Phenotypes for gene: ADA2 were changed from VAIHS (Polyarteritis nodosa); Polyarteritis nodosa; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
24 Mar 2021	Multiple monogenic benign skin tumours v1.12	PMS2	Ivone Leong Phenotypes for gene: PMS2 were changed from Muir Torre to Muir-Torre syndrome, MONDO:0008018
24 Mar 2021	Multiple monogenic benign skin tumours v1.11	MSH6	Ivone Leong Phenotypes for gene: MSH6 were changed from Muir-Torre syndrome to Muir-Torre syndrome, MONDO:0008018
24 Mar 2021	Multiple monogenic benign skin tumours v1.10	MSH2	Ivone Leong Phenotypes for gene: MSH2 were changed from to Muir-Torre syndrome, OMIM:158320
24 Mar 2021	Multiple monogenic benign skin tumours v1.9	MLH1	Ivone Leong Phenotypes for gene: MLH1 were changed from to Muir-Torre syndrome, OMIM:158320
24 Mar 2021	Multiple monogenic benign skin tumours v1.8	LEMD3	Ivone Leong Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME to Osteopoikilosis with or without melorheostosis, OMIM:166700; BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700
24 Mar 2021	Multiple monogenic benign skin tumours v1.7	FLCN	Ivone Leong Phenotypes for gene: FLCN were changed from Birt-Hogg-Dub syndrome to Birt-Hogg-Dub syndrome, OMIM:135150
24 Mar 2021	Multiple monogenic benign skin tumours v1.6	CYLD	Ivone Leong Phenotypes for gene: CYLD were changed from Familial cylindromatosis, Multiple familial trichoepitheliomas to Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.48	EGFR	Ivone Leong Phenotypes for gene: EGFR were changed from to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.47	EGFR	Ivone Leong Publications for gene: EGFR were set to
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.46	DSG3	Ivone Leong Phenotypes for gene: DSG3 were changed from mucosal fragility to Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.45	DSC3	Ivone Leong Phenotypes for gene: DSC3 were changed from to ?Hypotrichosis and recurrent skin vesicles, OMIM:613102
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.44	DSC3	Ivone Leong Publications for gene: DSC3 were set to
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.43	CD151	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: [Blood group, Raph], 179620;Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Kindler syndrome-like epidermolysis bullosa
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.43	CD151	Ivone Leong Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa to Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.42	ATP2A2	Ivone Leong Phenotypes for gene: ATP2A2 were changed from to Darier disease, OMIM:124200
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.41	TGM5	Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome,MONDO:0012345
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.40	TGM5	Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, 609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.39	SPINK5	Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.38	SPINK5	Ivone Leong Publications for gene: SPINK5 were set to
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.37	SLC39A4	Ivone Leong Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, OMIM:201100
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.36	SERPINB8	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Peeling skin HP:0040189;erythema HP:0010783;palmoplantar hyperkeratosis HP:0007530;Peeling skin syndrome 5, 617115;Ichthyosis HP:0008064;skin erosions HP:0200041
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.36	SERPINB8	Ivone Leong Phenotypes for gene: SERPINB8 were changed from Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 5, OMIM:617115
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.35	PLEC	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis Bullosa with Muscular Dystrophy;Epidermolysis bullosa simplex, Ogna type (AD), 131950;Epidermolysis Bullosa Simplex, Ogna Type;Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex with pyloric atresia (AR), 612138;Epidermolysis bullosa simplex including Ogna variant;Epidermolysis Bullosa Simplex With Muscular Dystrophy;Epidermolysis Bullosa Simplex With Pyloric Atresia
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.35	PLEC	Ivone Leong Phenotypes for gene: PLEC were changed from Epidermolysis Bullosa with Muscular Dystrophy; Epidermolysis bullosa simplex, Ogna type (AD), 131950; Epidermolysis Bullosa Simplex, Ogna Type; Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex with pyloric atresia (AR), 612138; Epidermolysis bullosa simplex including Ogna variant; Epidermolysis Bullosa Simplex With Muscular Dystrophy; Epidermolysis Bullosa Simplex With Pyloric Atresia to Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.34	PKP1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.34	PKP1	Ivone Leong Phenotypes for gene: PKP1 were changed from Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa to Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.33	LAMC2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.33	LAMC2	Ivone Leong Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.32	LAMB3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.32	LAMB3	Ivone Leong Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.31	LAMA3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa, junctional, Herlitz type, 226700;Shabbir syndrome;Epidermolysis bullosa, junctional, non-Herlitz type;Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate);Junctional Epidermolysis Bullosa;Epidermolysis bullosa, generalized atrophic benign, 226650;Laryngoonychocutaneous syndrome, 245660
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.31	LAMA3	Ivone Leong Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Shabbir syndrome; Epidermolysis bullosa, junctional, non-Herlitz type; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Junctional Epidermolysis Bullosa; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, generalized atrophic benign, OMIM:226650; Laryngoonychocutaneous syndrome, OMIM:245660
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.30	KRT5	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis Bullosa Simplex, Dowling-Meara Type;Epidermolysis Bullosa Simplex;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex with mottled pigmentation, 131960;Epidermolysis Bullosa Simplex, Localized;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.30	KRT5	Ivone Leong Phenotypes for gene: KRT5 were changed from Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex, Localized; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Epidermolysis bullosa simplex, Koebner type, OMIM:131900; Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960; Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.29	KRT14	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800;Dermatopathia pigmentosa reticularis (AD), 125595;Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000;Epidermolysis bullosa simplex, Koebner type (AD), 131900;Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, recessive 1 (AR), 601001;Epidermolysis Bullosa Simplex, Localized
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.29	KRT14	Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800; Dermatopathia pigmentosa reticularis (AD), OMIM:125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000; Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760; Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.28	KRT10	Ivone Leong Phenotypes for gene: KRT10 were changed from EHK; Epidermolytic hyperkeratosis, 113800 to Epidermolytic hyperkeratosis, OMIM:113800
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.27	KRT1	Ivone Leong Phenotypes for gene: KRT1 were changed from EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs to Epidermolytic hyperkeratosis, OMIM:113800
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.26	KLHL24	Ivone Leong Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex (autosomal dominant) to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.25	KLHL24	Ivone Leong Added comment: Comment on publications: Previous publications: 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5;48(12):1508-1516. Am J Hum Genet. 2016 Dec 1;Nat Genet. 2016 Dec
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.25	KLHL24	Ivone Leong Publications for gene: KLHL24 were set to 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5; 48(12):1508-1516. Am J Hum Genet. 2016 Dec 1; Nat Genet. 2016 Dec
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.24	JUP	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.24	JUP	Ivone Leong Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.23	ITGB4	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Epidermolysis bullosa, junctional, with pyloric atresia, 226730;Epidermolysis bullosa with pyloric atresia
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.23	ITGB4	Ivone Leong Phenotypes for gene: ITGB4 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia to Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650; Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.22	ITGA6	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa with pyloric atresia;Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;generalised intermediate junctional Epidermolysis bullosa
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.22	ITGA6	Ivone Leong Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.21	ITGA3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Junctional Epidermolysis bullosa;Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.21	ITGA3	Ivone Leong Phenotypes for gene: ITGA3 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.20	IKBKG	Ivone Leong Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, OMIM:308300
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.19	FLG2	Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM:618084
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.18	FERMT1	Ivone Leong Phenotypes for gene: FERMT1 were changed from Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650 to Kindler syndrome, OMIM:173650
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.17	EXPH5	Ivone Leong Phenotypes for gene: EXPH5 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex to Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.16	DST	Ivone Leong Phenotypes for gene: DST were changed from Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425 to Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.15	DSP	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa, lethal acantholytic, 609638;Severe generalised Epidermolysis bullosa simplex;Skin fragility-woolly hair syndrome,607655;Lethal acantholytic epidermolysis bullosa
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.15	DSP	Ivone Leong Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa to Epidermolysis bullosa, lethal acantholytic, OMIM:609638
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.14	DSG1	Ivone Leong Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.13	CSTA	Ivone Leong Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.12	CSTA	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hyperhidrosis HP:0000975;Peeling skin HP:0040189;OMIM:607936;erythema HP:0010783;Peeling skin syndrome 4, 607936;palmoplantar hyperkeratosis HP:0007530;Hyperkeratosis HP:0000962;Erythroderma HP:0001019;Lichenification HP:0100725;Ichthyosis HP:0008064;skin erosions HP:0200041
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.12	CSTA	Ivone Leong Phenotypes for gene: CSTA were changed from Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 4, OMIM:607936
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.11	COL7A1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa dystrophica (AD), 131750;Epidermolysis bullosa, pretibial (AR,AD), 131850;Epidermolysis bullosa dystrophica (AR), 226600;EBD, Bart type (AD), 132000;Dystrophic Epidermolysis Bullosa;Transient bullous of the newborn (AR,AD), 131705;EBD inversa (AR), 226600
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.11	COL7A1	Ivone Leong Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica (AD), 131750; Epidermolysis bullosa, pretibial (AR,AD), 131850; Epidermolysis bullosa dystrophica (AR), 226600; EBD, Bart type (AD), 132000; Dystrophic Epidermolysis Bullosa; Transient bullous of the newborn (AR,AD), 131705; EBD inversa (AR), 226600 to Epidermolysis bullosa dystrophica (AD), OMIM:131750; Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850; Epidermolysis bullosa dystrophica (AR), OMIM:226600; EBD, Bart type (AD), OMIM:132000; Epidermolysis bullosa pruriginosa, OMIM:604129; Transient bullous of the newborn (AR,AD), OMIM:131705; EBD inversa (AR), OMIM:226600
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.10	COL17A1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.10	COL17A1	Ivone Leong Phenotypes for gene: COL17A1 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa to Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.9	CDSN	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: OMIM:#270300;Peeling skin HP:0040189;erythema HP:0010783;Allergy HP:0012393;Peeling skin syndrome 1, 270300;Hyperkeratosis HP:0000962.;Generalised erythroderma HP:0001019;PSS1;Increased IgE level HP:0003212;Pruritus HP:0000989
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.9	CDSN	Ivone Leong Phenotypes for gene: CDSN were changed from OMIM:#270300; Peeling skin HP:0040189; erythema HP:0010783; Allergy HP:0012393; Peeling skin syndrome 1, 270300; Hyperkeratosis HP:0000962.; Generalised erythroderma HP:0001019; PSS1; Increased IgE level HP:0003212; Pruritus HP:0000989 to Peeling skin syndrome 1, OMIM:270300
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.8	CDSN	Ivone Leong Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.7	CAST	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Peeling skin HP:0040189;Leukonychia HP:0001820;OMIM:#616295;Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295;Punctate palmoplantar hyperkeratosis HP:0007530;Knuckle pads.;Cheilitis HP:0100825
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.7	CAST	Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.6	CAST	Ivone Leong Publications for gene: CAST were set to PMID: 25683118
24 Mar 2021	Epidermolysis bullosa and congenital skin fragility v1.5	ATP2C1	Ivone Leong Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease, OMIM:169600
23 Mar 2021	Osteopetrosis v1.26	TNFRSF11A	Eleanor Williams Added comment: Comment on phenotypes: Removing Osteolysis, familial expansile OMIM:174810 as a phenotype as it doesn't seem to have a osteopetrosis type element.
23 Mar 2021	Osteopetrosis v1.26	TNFRSF11A	Eleanor Williams Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301 to {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301
23 Mar 2021	Familial hypercholesterolaemia - targeted panel v1.9	GCKR	Sarah Leigh gene: GCKR was added gene: GCKR was added to Familial hypercholesterolaemia - targeted panel. Sources: Other Mode of inheritance for gene: GCKR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GCKR were set to familial hypercholesterolemia MONDO:0005439 Review for gene: GCKR was set to RED Added comment: Personal communication from Mafalda Bourbon, Head of the Cardiovascular Research Group, National Iinstitue of Health Dr Ricardo Jorge, Lisbon, Portugal: Two different heterozygous nonsense variants found in two FH patients, who were negative for variants in LDLR, APOB and PCSK9. Sources: Other
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.19	FGF17	Ivone Leong Phenotypes for gene: FGF17 were changed from Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 to Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.18	TCF12	Ivone Leong Classified gene: TCF12 as Amber List (moderate evidence)
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.18	TCF12	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.18	TCF12	Ivone Leong Gene: tcf12 has been classified as Amber List (Moderate Evidence).
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.17	TCF12	Ivone Leong Tag Q2_21_rating tag was added to gene: TCF12.
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.17	TCF12	Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome, MONDO:0018800
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.16	IGSF10	Ivone Leong Tag watchlist tag was added to gene: IGSF10.
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.16	IGSF10	Ivone Leong Classified gene: IGSF10 as Amber List (moderate evidence)
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.16	IGSF10	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so therefore this gene has been given an Amber rating.
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.16	IGSF10	Ivone Leong Gene: igsf10 has been classified as Amber List (Moderate Evidence).
23 Mar 2021	Genetic epilepsy syndromes v2.306	PIGU	Arina Puzriakova Phenotypes for gene: PIGU were changed from Glycosylphosphatidylinositol biosynthesis defect 2, 618590; myoclonic seizures; focal myoclonic seizures; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
23 Mar 2021	Intellectual disability v3.981	PIGU	Arina Puzriakova Phenotypes for gene: PIGU were changed from Glycosylphosphatidylinositol biosynthesis defect 2, 618590; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.60	SMARCAD1	Ivone Leong Phenotypes for gene: SMARCAD1 were changed from Basan syndrome, 129200; palmoplantar keratoderma to Basan syndrome, OMIM:129200; palmoplantar keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.59	KRT2	Ivone Leong Phenotypes for gene: KRT2 were changed from to Ichthyosis bullosa of Siemens, OMIM:146800
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.58	TRPV3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques;?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400;Olmsted syndrome, 614594
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.58	TRPV3	Ivone Leong Phenotypes for gene: TRPV3 were changed from Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594 to ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400; Olmsted syndrome, OMIM:614594
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.57	TGM1	Ivone Leong Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 to Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.56	TAT	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: palmoplantar hyperkeratosis;KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;Tyrosinemia, type II, 276600
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.56	TAT	Ivone Leong Phenotypes for gene: TAT were changed from palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600 to Tyrosinemia, type II, OMIM:276600
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.55	STS	Ivone Leong Phenotypes for gene: STS were changed from Ichthyosis, X-linked, 308100 to Ichthyosis, X-linked, OMIM:308100
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.54	ST14	Ivone Leong Phenotypes for gene: ST14 were changed from Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400 to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.53	SPINK5	Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM: 256500
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.52	SNAP29	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: CEDNIK syndrome;Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.52	SNAP29	Ivone Leong Phenotypes for gene: SNAP29 were changed from CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.51	SLURP1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: keratosis palmoplantaris transgrediens;Diffuse palmoplantar keratoderma;palmoplantar keratoderma;Mal de Meleda (MDM);Meleda disease, 248300
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.51	SLURP1	Ivone Leong Phenotypes for gene: SLURP1 were changed from keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300 to Meleda disease, OMIM:248300
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.50	SLC27A4	Ivone Leong Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome, 608649 to Ichthyosis prematurity syndrome, OMIM:608649
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.49	SERPINB7	Ivone Leong Phenotypes for gene: SERPINB7 were changed from palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598 to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, OMIM:615598
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.48	SDR9C7	Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 617574 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.47	RSPO1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: palmoplantar keratoderma;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644;Palmoplantar hyperkeratosis and true hermaphroditism, 610644
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.47	RSPO1	Ivone Leong Phenotypes for gene: RSPO1 were changed from palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644 to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644; Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.46	RHBDF2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Howel-Evans syndrome;tylosis with oesophageal cancer;PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;oral leukokeratosis;Focal keratoderma;Hyperkeratosis, diffuse palmoplantar (tylosis);tylosis with esophageal cancer, 148500;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.46	RHBDF2	Ivone Leong Phenotypes for gene: RHBDF2 were changed from Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER to Tylosis with esophageal cancer, OMIM:148500
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.45	PNPLA1	Ivone Leong Phenotypes for gene: PNPLA1 were changed from Ichthyosis, congenital, autosomal recessive 10, 615024 to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.44	PIGL	Ivone Leong Phenotypes for gene: PIGL were changed from to CHIME syndrome, OMIM:280000
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.43	NIPAL4	Ivone Leong Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6, 612281 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.42	LOR	Ivone Leong Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, OMIM:604117
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.41	KRT9	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Palmoplantar Keratoderma, Epidermolytic;Diffuse keratoderma with knuckle pads;Diffuse keratoderma with digital mutilation;V rner type palmoplantar keratoderma;Diffuse keratoderma;Palmoplantar keratoderma, epidermolytic, 144200;Epidermolytic Palmoplantar Keratoderma (EPPK)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.41	KRT9	Ivone Leong Phenotypes for gene: KRT9 were changed from Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK) to Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, OMIM:144200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.40	KRT6C	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Focal keratoderma;Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735;dystrophic nails
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.40	KRT6C	Ivone Leong Phenotypes for gene: KRT6C were changed from Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.39	KRT6B	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: pachyonychia congenita type 2 (PC-2);Pachyonychia congenita 4, 615728;PC4
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.39	KRT6B	Ivone Leong Phenotypes for gene: KRT6B were changed from pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4 to Pachyonychia congenita 4, OMIM:615728
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.38	KRT6A	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;Pachyonychia congenital;Pachyonychia Congenita, Type 1
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.38	KRT6A	Ivone Leong Phenotypes for gene: KRT6A were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1 to Pachyonychia congenita 3, OMIM:615726
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.37	KRT17	Ivone Leong Phenotypes for gene: KRT17 were changed from Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2 to Steatocystoma multiplex, OMIM:184500; Pachyonychia congenita 2, OMIM:167210
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.36	KRT16	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;focal non-epidermolytic palmoplantar keratoderma (NEPPK);striate keratoderma (palmar);Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia Congenita, Type 1;focal keratoderma (palmar);Focal keratoderma;FNEPPK1;Pachyonychia congenita (PC)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.36	KRT16	Ivone Leong Phenotypes for gene: KRT16 were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) to Pachyonychia congenita 1, OMIM:167200; Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.35	KRT14	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Naegeli-Franceschetti-Jadassohn syndrome, 161000;palmoplantar keratoderma;Dermatopathia pigmentosa reticularis, 125595;Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.35	KRT14	Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000; Dermatopathia pigmentosa reticularis, OMIM:125595
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.34	KRT10	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolytic hyperkeratosis (EHK), 113800;erythroderma, prominent scale, and palmoplantar keratoderma;ichthyosis with confetti, 609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.34	KRT10	Ivone Leong Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 to Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.33	KRT1	Ivone Leong Added comment: Comment on phenotypes: Prevous phenotype: Palmoplantar keratoderma, nonepidermolytic, 600962;Palmoplantar keratoderma, epidermolytic, 1;Ichthyosis histrix, Curth-Macklin type, 146590;Epidermolytic hyperkeratosis, 113800;Diffuse palmoplantar keratoderma;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602;triate keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.33	KRT1	Ivone Leong Phenotypes for gene: KRT1 were changed from Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma to Palmoplantar keratoderma, nonepidermolytic, OMIM:600962; Palmoplantar keratoderma, epidermolytic, OMIM:; 600962; Ichthyosis histrix, Curth-Macklin type, OMIM:146590; Epidermolytic hyperkeratosis, OMIM:113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.32	KDSR	Ivone Leong Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4, 617526 to Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
23 Mar 2021	Thrombophilia v1.11	PROC	Arina Puzriakova Phenotypes for gene: PROC were changed from 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant to Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304; Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.31	JUP	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR;palmoplantar keratoderma (PPK), keratoderma with woolly hair;Naxos disease, 601214;KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.31	JUP	Ivone Leong Phenotypes for gene: JUP were changed from WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY to Naxos disease, OMIM:601214
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.30	GJB6	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ectodermal dysplasia 2, Clouston type, 129500;Clouston syndrome;palmoplantar hyperkeratosis;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.30	GJB6	Ivone Leong Phenotypes for gene: GJB6 were changed from Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT to Ectodermal dysplasia 2, Clouston type, OMIM:129500
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.29	GJB4	Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2, 617524 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.28	GJB3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Erythrokeratoderma;deafness;Erythrokeratodermia variabilis et progressiva, 133200;peripheral neuropathy;Erythrokeratodermia Variabilis
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.28	GJB3	Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis to Erythrokeratodermia variabilis et progressiva, OMIM:133200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.27	GJB2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hystrix-like ichthyosis with deafness, 602540;Keratoderma, palmoplantar, with deafness, 148350;Deafness, autosomal recessive 1A, 220290;Deafness, autosomal dominant 3A, 601544;Keratitis-ichthyosis-deafness syndrome, 148210;Vohwinkel syndrome, 124500;Keratoderma with deafness;Bart-Pumphrey syndrome, 149200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.27	GJB2	Ivone Leong Phenotypes for gene: GJB2 were changed from Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200 to Hystrix-like ichthyosis with deafness, OMIM:602540; Keratoderma, palmoplantar, with deafness, OMIM:148350; Keratitis-ichthyosis-deafness syndrome, OMIM:148210; Vohwinkel syndrome, OMIM:24500; Bart-Pumphrey syndrome, OMIM:149200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.26	GJA1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: keratoderma, hypotrichosis and leukonychia;Palmoplantar keratoderma with congenital alopecia, 104100;Erythrokeratoderma;Erythrokeratodermia variabilis et progressiva 3, 617525;Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma;Palmoplantar keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.26	GJA1	Ivone Leong Phenotypes for gene: GJA1 were changed from keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.25	FLG2	Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM: 618084
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.24	FLG	Ivone Leong Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris, OMIM:146700
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.23	ENPP1	Ivone Leong Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.22	DSP	Ivone Leong Phenotypes for gene: DSP were changed from Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676; Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.21	DSP	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Skin fragility-woolly hair syndrome;Keratosis palmoplantaris striata II, 612908;lethal acantholytic epidermolysis bullosa, 609638;Striate keratoderma with woolly hair and cardiomyopathy;Skin fragility-woolly hair syndrome, 607655;oligodontia or hypodontia;alopecia, follicular hyperkeratoses and keratoderma;diffuse keratoderma;Epidermolysis bullosa, lethal acantholytic;striate keratoderma;CARVAJAL SYNDROME;Arrhythmogenic right ventricular dysplasia 8, 607450;Keratosis palmoplantaris striata II;Dilated cardiomyopathy with woolly hair and keratoderma, 605676
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.21	DSP	Ivone Leong Phenotypes for gene: DSP were changed from Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676
23 Mar 2021	Thrombophilia v1.10	HRG	Arina Puzriakova Phenotypes for gene: HRG were changed from 613116 Thrombophilia due to HRG deficiency to Thrombophilia due to HRG deficiency, OMIM:613116
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.20	DSG1	Ivone Leong Phenotypes for gene: DSG1 were changed from Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700 to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.19	DSC2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Arrhythmogenic right ventricular dysplasia 11, 610476;Striate keratoderma with woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.19	DSC2	Ivone Leong Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.18	CYP4F22	Ivone Leong Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, OMIM:604777
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.17	CERS3	Ivone Leong Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.16	CLDN1	Ivone Leong Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.15	CAST	Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.14	CAST	Ivone Leong Publications for gene: CAST were set to
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.13	CARD14	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: familial pityriasis rubra pilaris;Pityriasis rubra pilaris, 173200;keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.13	CARD14	Ivone Leong Phenotypes for gene: CARD14 were changed from familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma to Pityriasis rubra pilaris, OMIM:173200
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.12	AQP5	Ivone Leong Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type, 600231 to Palmoplantar keratoderma, Bothnian type, OMIM:600231
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.11	ALOX12B	Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.10	ALOXE3	Ivone Leong Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, OMIM:606545 to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545; congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.9	ALOXE3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Most patients present with collodion membrane at birth and have palmoplantar keratoderma;Ichthyosis, congenital, autosomal recessive 3, 606545;Nonbullous congenital ichthyosiform erythroderma (NBCIE)
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.9	ALOXE3	Ivone Leong Phenotypes for gene: ALOXE3 were changed from Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE) to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.8	ABCA12	Ivone Leong Phenotypes for gene: ABCA12 were changed from Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 to Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500; Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.7	AAGAB	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Keratoderma, palmoplantar, punctate type IA, 148600;PPKP Buschke-Fischer-Brauer type;Punctate keratoderma and congenital dysplasia of the hip;Punctate keratoderma
23 Mar 2021	Ichthyosis and erythrokeratoderma v1.7	AAGAB	Ivone Leong Phenotypes for gene: AAGAB were changed from Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma to Keratoderma, palmoplantar, punctate type IA, OMIM:148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip
23 Mar 2021	Thrombophilia v1.9	FGG	Arina Puzriakova Phenotypes for gene: FGG were changed from 202400 Afibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital to Afibrinogenemia, congenital, OMIM:202400; Hypofibrinogenemia, congenital, OMIM:202400; Dysfibrinogenemia, congenital, OMIM:616004; Hypodysfibrinogenemia, OMIM:616004; Thrombophilia, MONDO:0002305
23 Mar 2021	Thrombophilia v1.8	FGB	Arina Puzriakova Phenotypes for gene: FGB were changed from 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital to Afibrinogenemia, congenital, OMIM:202400; Hypofibrinogenemia, congenital, OMIM:202400; Dysfibrinogenemia, congenital, OMIM:616004; Thrombophilia, MONDO:0002305
23 Mar 2021	Thrombophilia v1.7	FGA	Arina Puzriakova Phenotypes for gene: FGA were changed from 202400 Afibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Hypodysfibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital to 202400 Afibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital
23 Mar 2021	Severe Paediatric Disorders v1.66	ADAMTS13	Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
23 Mar 2021	Cytopenia - NOT Fanconi anaemia v1.36	ADAMTS13	Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
23 Mar 2021	Cytopenias and congenital anaemias v1.84	ADAMTS13	Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Familial Thrombotic Thrombocytopenia Purpura; Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
23 Mar 2021	Atypical haemolytic uraemic syndrome v2.8	ADAMTS13	Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, MIM# 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
23 Mar 2021	Bleeding and platelet disorders v1.23	ADAMTS13	Arina Puzriakova Publications for gene: ADAMTS13 were set to 15009458; 11586351; 12753286
23 Mar 2021	Thrombophilia v1.6	ADAMTS13	Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
23 Mar 2021	Thrombophilia v1.6	ADAMTS13	Arina Puzriakova Added comment: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
23 Mar 2021	Thrombophilia v1.6	ADAMTS13	Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Mar 2021	Bleeding and platelet disorders v1.22	ADAMTS13	Arina Puzriakova changed review comment from: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.; to: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
23 Mar 2021	Bleeding and platelet disorders v1.22	ADAMTS13	Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
23 Mar 2021	Bleeding and platelet disorders v1.22	ADAMTS13	Arina Puzriakova Added comment: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
23 Mar 2021	Bleeding and platelet disorders v1.22	ADAMTS13	Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23 Mar 2021	Inherited bleeding disorders v1.158	ADAMTS13	Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP; Thrombotic disorder; Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
23 Mar 2021	Bleeding and platelet disorders v1.21	ADAMTS13	Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
23 Mar 2021	Inherited bleeding disorders v1.157	ADAMTS13	Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' - only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
23 Mar 2021	Inherited bleeding disorders v1.157	ADAMTS13	Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
23 Mar 2021	Thrombophilia v1.5	ADAMTS13	Arina Puzriakova Tag Q2_21_MOI was removed from gene: ADAMTS13.
23 Mar 2021	Thrombophilia v1.5	ADAMTS13	Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
23 Mar 2021	Thrombophilia v1.5	ADAMTS13	Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
23 Mar 2021	Hereditary Erythrocytosis v1.35	EGLN3	Arina Puzriakova Phenotypes for gene: EGLN3 were changed from erythrocytosis to Familial erythrocytosis
23 Mar 2021	Hereditary Erythrocytosis v1.34	SH2B3	Arina Puzriakova Phenotypes for gene: SH2B3 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
23 Mar 2021	Hereditary Erythrocytosis v1.33	SH2B3	Arina Puzriakova Publications for gene: SH2B3 were set to
23 Mar 2021	Hereditary Erythrocytosis v1.32	JAK2	Arina Puzriakova Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
23 Mar 2021	Hereditary Erythrocytosis v1.31	BPGM	Arina Puzriakova Phenotypes for gene: BPGM were changed from Erythrocytosis, familial, 8 222800 to Erythrocytosis, familial, 8, OMIM:222800
23 Mar 2021	Hereditary Erythrocytosis v1.30	VHL	Arina Puzriakova Phenotypes for gene: VHL were changed from Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins to Erythrocytosis, familial, 2, OMIM:263400
23 Mar 2021	Hereditary Erythrocytosis v1.29	HBB	Arina Puzriakova Phenotypes for gene: HBB were changed from Familial erythrocytosis to Erythrocytosis 6, OMIM:617980
23 Mar 2021	Hereditary Erythrocytosis v1.28	HBA2	Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemia, OMIM:140700; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Thalassemia, alpha-, OMIM:604131
23 Mar 2021	Hereditary Erythrocytosis v1.28	HBA2	Arina Puzriakova Phenotypes for gene: HBA2 were changed from Erythrocytosis to Erythrocytosis 7, OMIM:617981
23 Mar 2021	Hereditary Erythrocytosis v1.27	HBA1	Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131
23 Mar 2021	Hereditary Erythrocytosis v1.27	HBA1	Arina Puzriakova Phenotypes for gene: HBA1 were changed from Familial erythrocytosis to Erythrocytosis 7, OMIM:617981
23 Mar 2021	Hereditary Erythrocytosis v1.26	EPOR	Arina Puzriakova Phenotypes for gene: EPOR were changed from Polcythaemia; erythrocytosis; Familial Erythrocytosis to [Erythrocytosis, familial, 1], OMIM:133100
23 Mar 2021	Hereditary Erythrocytosis v1.25	EPO	Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with ?Diamond-Blackfan anemia-like, OMIM:617911; {Microvascular complications of diabetes 2}, OMIM:612623
23 Mar 2021	Hereditary Erythrocytosis v1.25	EPO	Arina Puzriakova Phenotypes for gene: EPO were changed from Erythrocytosis, familial, 5 617907 to Erythrocytosis, familial, 5, OMIM:617907
23 Mar 2021	Hereditary Erythrocytosis v1.24	EPAS1	Arina Puzriakova Phenotypes for gene: EPAS1 were changed from Familial Erythrocytosis, 611783; Erythrocystosis; Pulmonary arterial hypertension; paraganglioma to Erythrocytosis, familial, 4, OMIM:611783
23 Mar 2021	Hereditary Erythrocytosis v1.23	EGLN1	Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with [Hemoglobin, high altitude adaptation], OMIM:609070
23 Mar 2021	Hereditary Erythrocytosis v1.23	EGLN1	Arina Puzriakova Phenotypes for gene: EGLN1 were changed from Familial Erythrocytosis 609820; Polycythaemia; paraganglioma; phaeochromocytoma to Erythrocytosis, familial, 3, OMIM:609820
23 Mar 2021	Combined factor V and VIII deficiency v1.6	MCFD2	Arina Puzriakova Phenotypes for gene: MCFD2 were changed from Factor V and factor VIII, combined deficiency of, 613625; 227300 Combined factor V and VIII deficiency; 613625 Factor V and factor VIII, combined deficiency of to Factor V and factor VIII, combined deficiency of, OMIM:613625
23 Mar 2021	Combined factor V and VIII deficiency v1.5	LMAN1	Arina Puzriakova Phenotypes for gene: LMAN1 were changed from 227300 Combined factor V and VIII deficiency; Combined factor V and VIII deficiency, 227300 to Combined factor V and VIII deficiency, OMIM:227300
23 Mar 2021	Endocrine neoplasms v1.22	PTEN	Ivone Leong Tag Q2_21_rating tag was added to gene: PTEN. Tag Q2_21_NHS_review tag was added to gene: PTEN.
23 Mar 2021	Endocrine neoplasms v1.22	MLH1	Ivone Leong Tag Q2_21_rating tag was added to gene: MLH1. Tag Q2_21_NHS_review tag was added to gene: MLH1.
23 Mar 2021	Endocrine neoplasms v1.22	MSH2	Ivone Leong Tag Q2_21_rating tag was added to gene: MSH2. Tag Q2_21_NHS_review tag was added to gene: MSH2.
23 Mar 2021	Endocrine neoplasms v1.22	MSH6	Ivone Leong Tag Q2_21_rating tag was added to gene: MSH6. Tag Q2_21_NHS_review tag was added to gene: MSH6.
23 Mar 2021	Endocrine neoplasms v1.22	PMS2	Ivone Leong Tag Q2_21_rating tag was added to gene: PMS2. Tag Q2_21_NHS_review tag was added to gene: PMS2.
23 Mar 2021	Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15	NF1	Ivone Leong Tag Q2_21_rating tag was added to gene: NF1. Tag Q2_21_NHS_review tag was added to gene: NF1.
23 Mar 2021	Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15	EPAS1	Ivone Leong Tag Q2_21_rating tag was added to gene: EPAS1. Tag Q2_21_NHS_review tag was added to gene: EPAS1.
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.15	CCDC141	Ivone Leong Tag Q2_21_expert_review tag was added to gene: CCDC141.
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.15	CCDC141	Ivone Leong Classified gene: CCDC141 as Amber List (moderate evidence)
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.15	CCDC141	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 251920460 describes 2 affected siblings from a consanguineous family with anosmic HH, who had homozygous variant in FEZF1 (Amber gene on this panel) and also homozyous for variant in CCDC141. PMID: 28324054 describes the above case and also 3 new cases (all had normal sense of smell and HH). Family 2: compound het for CCDC141 and heterozygous for DMXL2 variant. Family 3: heterozygous for CCDC141 variant and heterozygous for variants in 3 other genes (NR5A2, FSHB - Green on HH panel, IGSF10). Family 4: affected patient was heterozygous for CCDC141 variant, which the father also carried but father was unaffected. PMID: 32520725 describes a large Chinese cohort with congenital HH looking at the contribution of CCDC141 to the disease. 12 probands had variants CCDC141 and 9 of these probands had variants in other HH-related genes (inluding PCSK1, ANOS1, PROKR2, AXL, SOX10, HS6ST1, PNPLA6 and FGFR1). The authors concluded that CCDC141 variants alone is not sufficient to cause HH. PMID: 27014940 talks about a ccdc141 knockdown mouse model reduces GnRH neuronal migration. After discussing with the Genomics England Clinical Team, it was decided that this gene should have an Amber rating as variants. Helen Brittain (Genomics England): "...variants in this gene may be seen as a risk allele (either with other known contributory genetic factors, or unexplained variable penetrance)."
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.15	CCDC141	Ivone Leong Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.14	CCDC141	Ivone Leong Phenotypes for gene: CCDC141 were changed from Anosmic hypogonadotropic hypogonadism to Anosmic hypogonadotropic hypogonadism; congenital hypogonadotropic hypogonadism, MONDO:0015770
23 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.13	CCDC141	Ivone Leong Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046
23 Mar 2021	Intestinal failure v1.12	FLNA	Ivone Leong Tag Q2_21_rating tag was added to gene: FLNA. Tag Q2_21_NHS_review tag was added to gene: FLNA.
23 Mar 2021	Intestinal failure v1.12	FLNA	Ivone Leong Classified gene: FLNA as Amber List (moderate evidence)
23 Mar 2021	Intestinal failure v1.12	FLNA	Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
23 Mar 2021	Intestinal failure v1.12	FLNA	Ivone Leong Gene: flna has been classified as Amber List (Moderate Evidence).
23 Mar 2021	Intestinal failure v1.11	FLNA	Ivone Leong Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048
23 Mar 2021	Intestinal failure v1.10	FLNA	Ivone Leong Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
23 Mar 2021	Intestinal failure v1.9	CLMP	Ivone Leong Tag Q2_21_rating tag was added to gene: CLMP. Tag Q2_21_NHS_review tag was added to gene: CLMP.
23 Mar 2021	Intestinal failure v1.9	CLMP	Ivone Leong Classified gene: CLMP as Amber List (moderate evidence)
23 Mar 2021	Intestinal failure v1.9	CLMP	Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
23 Mar 2021	Intestinal failure v1.9	CLMP	Ivone Leong Gene: clmp has been classified as Amber List (Moderate Evidence).
23 Mar 2021	Intestinal failure v1.8	CLMP	Ivone Leong Phenotypes for gene: CLMP were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:615237
23 Mar 2021	Intestinal failure v1.7	CLMP	Ivone Leong Publications for gene: CLMP were set to 27352967; 22155368; 33384711; 31061750
23 Mar 2021	Intestinal failure v1.6	CLMP	Ivone Leong Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
22 Mar 2021	Hypogonadotropic hypogonadism idiopathic v1.12	FEZF1	Ivone Leong Phenotypes for gene: FEZF1 were changed from Hypogonadotropic hypogonadism type 22 (OMIM 616030) to Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030
22 Mar 2021	Vascular skin disorders v1.47	PTEN	Ivone Leong Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350; capillary venous malformations to Cowden syndrome 1, OMIM:158350; capillary venous malformations
22 Mar 2021	Vascular skin disorders v1.46	ATR	Ivone Leong Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564
22 Mar 2021	Vascular skin disorders v1.45	TMEM173	Ivone Leong Phenotypes for gene: TMEM173 were changed from STING-associated vasculopathy to STING-associated vasculopathy, infantile-onset, OMIM:615934
22 Mar 2021	Vascular skin disorders v1.44	TMEM173	Ivone Leong Publications for gene: TMEM173 were set to
22 Mar 2021	Vascular skin disorders v1.43	TEK	Ivone Leong Phenotypes for gene: TEK were changed from Venous malformations to Venous malformations, multiple cutaneous and mucosal, OMIM:600195
22 Mar 2021	Vascular skin disorders v1.42	TEK	Ivone Leong Publications for gene: TEK were set to
22 Mar 2021	Vascular skin disorders v1.41	SOX18	Ivone Leong Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
22 Mar 2021	Vascular skin disorders v1.40	SOX18	Ivone Leong Publications for gene: SOX18 were set to
22 Mar 2021	Vascular skin disorders v1.39	SMAD4	Ivone Leong Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
22 Mar 2021	Vascular skin disorders v1.38	SMAD4	Ivone Leong Publications for gene: SMAD4 were set to
22 Mar 2021	Vascular skin disorders v1.37	SCN9A	Ivone Leong Phenotypes for gene: SCN9A were changed from Erythromyalgia to Erythermalgia, primary, OMIM:133020
22 Mar 2021	Vascular skin disorders v1.36	SCN9A	Ivone Leong Publications for gene: SCN9A were set to
22 Mar 2021	Vascular skin disorders v1.35	RASA1	Ivone Leong Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation syndrome to Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354
22 Mar 2021	Vascular skin disorders v1.34	RASA1	Ivone Leong Publications for gene: RASA1 were set to
22 Mar 2021	Vascular skin disorders v1.33	PIK3R2	Ivone Leong Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387 to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387
22 Mar 2021	Vascular skin disorders v1.32	PIK3R2	Ivone Leong Publications for gene: PIK3R2 were set to
22 Mar 2021	Vascular skin disorders v1.31	PIK3CA	Ivone Leong Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth syndromes; Vascular malformations to PIK3CA-related overgrowth syndromes; Vascular malformation, MONDO:0024291
22 Mar 2021	Vascular skin disorders v1.30	PIK3CA	Ivone Leong Publications for gene: PIK3CA were set to
22 Mar 2021	Vascular skin disorders v1.29	KRIT1	Ivone Leong Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS, 116860 to CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860
22 Mar 2021	Vascular skin disorders v1.28	KRIT1	Ivone Leong Publications for gene: KRIT1 were set to
22 Mar 2021	Vascular skin disorders v1.27	GLMN	Ivone Leong Phenotypes for gene: GLMN were changed from Glomulovenous malformations to Glomulovenous malformations, OMIM:138000
22 Mar 2021	Vascular skin disorders v1.26	GLMN	Ivone Leong Publications for gene: GLMN were set to
22 Mar 2021	Vascular skin disorders v1.25	FOXC2	Ivone Leong Phenotypes for gene: FOXC2 were changed from Lymphoedema-distichiasis syndrome to Lymphoedema-distichiasis syndrome, OMIM:153400
22 Mar 2021	Vascular skin disorders v1.24	FOXC2	Ivone Leong Publications for gene: FOXC2 were set to
22 Mar 2021	Vascular skin disorders v1.23	FLT4	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Infantile haemangioma;Milroy disease
22 Mar 2021	Vascular skin disorders v1.23	FLT4	Ivone Leong Phenotypes for gene: FLT4 were changed from Infantile haemangioma; Milroy disease to Hemangioma, capillary infantile, somatic, OMIM:602089
22 Mar 2021	Vascular skin disorders v1.22	FLT4	Ivone Leong Publications for gene: FLT4 were set to
22 Mar 2021	Vascular skin disorders v1.21	FECH	Ivone Leong Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 to Protoporphyria, erythropoietic, 1, OMIM:177000
22 Mar 2021	Vascular skin disorders v1.20	F12	Ivone Leong Phenotypes for gene: F12 were changed from Hereditary angioedema to Angioedema, hereditary, type III, OMIM:610618
22 Mar 2021	Vascular skin disorders v1.19	F12	Ivone Leong Publications for gene: F12 were set to
22 Mar 2021	Vascular skin disorders v1.18	EPHB4	Ivone Leong Phenotypes for gene: EPHB4 were changed from CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196 to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196
22 Mar 2021	Vascular skin disorders v1.17	EPHB4	Ivone Leong Publications for gene: EPHB4 were set to
22 Mar 2021	Vascular skin disorders v1.16	ENG	Ivone Leong Phenotypes for gene: ENG were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
22 Mar 2021	Vascular skin disorders v1.15	ENG	Ivone Leong Publications for gene: ENG were set to
22 Mar 2021	Vascular skin disorders v1.14	CCBE1	Ivone Leong Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphoedema syndrome to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
22 Mar 2021	Vascular skin disorders v1.13	CCBE1	Ivone Leong Publications for gene: CCBE1 were set to
22 Mar 2021	Vascular skin disorders v1.12	ATM	Ivone Leong Phenotypes for gene: ATM were changed from Ataxia telengiectasia to Ataxia telengiectasia, OMIM:208900
22 Mar 2021	Vascular skin disorders v1.11	ATM	Ivone Leong Publications for gene: ATM were set to
22 Mar 2021	Vascular skin disorders v1.10	ALAS2	Ivone Leong Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
22 Mar 2021	Vascular skin disorders v1.9	ALAS2	Ivone Leong Publications for gene: ALAS2 were set to
22 Mar 2021	Vascular skin disorders v1.8	ADAMTS13	Ivone Leong Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
22 Mar 2021	Vascular skin disorders v1.7	ADAMTS13	Ivone Leong Publications for gene: ADAMTS13 were set to
22 Mar 2021	Vascular skin disorders v1.6	ACVRL1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hereditary haemorrhagic telengiectasia
22 Mar 2021	Vascular skin disorders v1.6	ACVRL1	Ivone Leong Phenotypes for gene: ACVRL1 were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
22 Mar 2021	Vascular skin disorders v1.5	ACVRL1	Ivone Leong Publications for gene: ACVRL1 were set to
22 Mar 2021	Congenital myaesthenic syndrome v2.36	VAMP1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital myasthenic syndrome; presynaptic CMS
22 Mar 2021	Congenital myaesthenic syndrome v2.36	VAMP1	Ivone Leong Phenotypes for gene: VAMP1 were changed from Congenital myasthenic syndrome; presynaptic CMS to Myasthenic syndrome, congenital, 25, OMIM:618323
22 Mar 2021	Congenital myaesthenic syndrome v2.35	SYT2	Ivone Leong Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, 616040 to Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
22 Mar 2021	Congenital myaesthenic syndrome v2.34	SYT2	Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review); 30533528
22 Mar 2021	Congenital myaesthenic syndrome v2.33	SLC5A7	Ivone Leong Phenotypes for gene: SLC5A7 were changed from Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143 to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
22 Mar 2021	Congenital myaesthenic syndrome v2.32	SLC25A1	Ivone Leong Phenotypes for gene: SLC25A1 were changed from ?Myasthenic syndrome, congenital, 23, presynaptic; 618197 to Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197
22 Mar 2021	Congenital myaesthenic syndrome v2.31	SLC18A3	Ivone Leong Phenotypes for gene: SLC18A3 were changed from Congenital myasthenic syndrome; ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239 to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
22 Mar 2021	Congenital myaesthenic syndrome v2.30	SCN4A	Ivone Leong Phenotypes for gene: SCN4A were changed from Myasthenic syndrome, congenital, 16, 614198; Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes to Myasthenic syndrome, congenital, 16, OMIM:614198
22 Mar 2021	Congenital myaesthenic syndrome v2.29	RAPSN	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326;acute respiratory crises;late and early onset
22 Mar 2021	Congenital myaesthenic syndrome v2.29	RAPSN	Ivone Leong Phenotypes for gene: RAPSN were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
22 Mar 2021	Congenital myaesthenic syndrome v2.28	PLEC	Ivone Leong Phenotypes for gene: PLEC were changed from Congenital myasthenic syndrome; Plectin deficiency; myasthenic syndrome; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) to Congenital myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
22 Mar 2021	Congenital myaesthenic syndrome v2.27	MUSK	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325;Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome
22 Mar 2021	Congenital myaesthenic syndrome v2.27	MUSK	Ivone Leong Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325
22 Mar 2021	Congenital myaesthenic syndrome v2.26	LRP4	Ivone Leong Phenotypes for gene: LRP4 were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 17, 616304 to ?Myasthenic syndrome, congenital, 17, OMIM:616304
22 Mar 2021	Congenital myaesthenic syndrome v2.25	GMPPB	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital Myasthenic Syndrome;muscular dystrophy-dystroglycanopathy;congenital muscular dystrophy with mental retardation;GMPPB-CMS;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome;MDDGC14 with features of CMS
22 Mar 2021	Congenital myaesthenic syndrome v2.25	GMPPB	Ivone Leong Phenotypes for gene: GMPPB were changed from Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome; MDDGC14 with features of CMS to Congenital Myasthenic Syndrome, MONDO:0018940
22 Mar 2021	Pulmonary arterial hypertension v2.9	AQP1	Nicholas Morrell reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Mar 2021	Congenital myaesthenic syndrome v2.24	GFPT1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital Myasthenic Syndrome, Recessive;Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome;tubular aggregates
22 Mar 2021	Congenital myaesthenic syndrome v2.24	GFPT1	Ivone Leong Phenotypes for gene: GFPT1 were changed from Congenital Myasthenic Syndrome, Recessive; Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
22 Mar 2021	Congenital myaesthenic syndrome v2.23	DPAGT1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital disorder of glycosylation, type Ij, 608093;Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750;Limb girdle congenital myasthenic;tubular aggregates;congenital disorder of glycosylation type Ij (CDG-IJ)
22 Mar 2021	Congenital myaesthenic syndrome v2.23	DPAGT1	Ivone Leong Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ) to Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
22 Mar 2021	Congenital myaesthenic syndrome v2.22	DOK7	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Myasthenic syndrome, congenital, 10, 254300;Myasthenia, limb-girdle, familial;Limb girdle congenital myasthenic syndrome
22 Mar 2021	Congenital myaesthenic syndrome v2.22	DOK7	Ivone Leong Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome to Myasthenic syndrome, congenital, 10, OMIM:254300
22 Mar 2021	Congenital myaesthenic syndrome v2.21	COLQ	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency;Myasthenic syndrome, congenital, 5, 603034
22 Mar 2021	Congenital myaesthenic syndrome v2.21	COLQ	Ivone Leong Phenotypes for gene: COLQ were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, OMIM:603034
22 Mar 2021	Congenital myaesthenic syndrome v2.20	COL13A1	Ivone Leong Phenotypes for gene: COL13A1 were changed from Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720 to Myasthenic syndrome, congenital, 19, OMIM:616720
22 Mar 2021	Congenital myaesthenic syndrome v2.19	CHRNG	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Myasthenia gravis, neonatal transient;Neonatal congenital myasthenia;escobar syndrome;fetal akinesia deformation sequence syndrome/FADS;multiple pterygium syndrome/MPS
22 Mar 2021	Congenital myaesthenic syndrome v2.19	CHRNG	Ivone Leong Phenotypes for gene: CHRNG were changed from Myasthenia gravis, neonatal transient; Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS to transient neonatal myasthenia gravis, MONDO:0018326
22 Mar 2021	Congenital myaesthenic syndrome v2.18	CHRNE	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 4A, slow-channel, 605809;Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Reduced channel conductance syndrome
22 Mar 2021	Congenital myaesthenic syndrome v2.18	CHRNE	Ivone Leong Phenotypes for gene: CHRNE were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
22 Mar 2021	Congenital myaesthenic syndrome v2.17	CHRND	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;?Myasthenic syndrome, congenital, 3A, slow-channel, 616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323;Myasthenic syndrome, congenital, 3B, fast-channel, 616322
22 Mar 2021	Congenital myaesthenic syndrome v2.17	CHRND	Ivone Leong Phenotypes for gene: CHRND were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 to ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323; Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
22 Mar 2021	Congenital myaesthenic syndrome v2.16	CHRNB1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314;Myasthenic syndrome, congenital, 2A, slow-channel, 616313;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Myasthenic syndrome, slow-channel congenital, 601462;Congenital Myasthenic Syndrome, Dominant/Recessive
22 Mar 2021	Congenital myaesthenic syndrome v2.16	CHRNB1	Ivone Leong Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Congenital Myasthenic Syndrome, Dominant/Recessive to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314; Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
22 Mar 2021	Congenital myaesthenic syndrome v2.15	CHRNB1	Ivone Leong Added comment: Comment on publications: In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
22 Mar 2021	Congenital myaesthenic syndrome v2.15	CHRNB1	Ivone Leong Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; 8651643; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
22 Mar 2021	Congenital myaesthenic syndrome v2.14	CHRNA1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 1A, slow-channel, 601462;Myasthenic syndrome, congenital, 1B, fast-channel, 608930;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome
22 Mar 2021	Congenital myaesthenic syndrome v2.14	CHRNA1	Ivone Leong Phenotypes for gene: CHRNA1 were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome to Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462; Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
22 Mar 2021	Congenital myaesthenic syndrome v2.13	CHRNA1	Ivone Leong Added comment: Comment on publications: PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
22 Mar 2021	Congenital myaesthenic syndrome v2.13	CHRNA1	Ivone Leong Publications for gene: CHRNA1 were set to 7619526; 15034283; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
22 Mar 2021	Congenital myaesthenic syndrome v2.12	CHAT	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210;Congenital myasthenics sndrome associated with episodic apnea;CMS-EA
22 Mar 2021	Congenital myaesthenic syndrome v2.12	CHAT	Ivone Leong Phenotypes for gene: CHAT were changed from Myasthenic syndrome, congenital, 6, presynaptic, 254210; Congenital myasthenics sndrome associated with episodic apnea; CMS-EA to Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
22 Mar 2021	Congenital myaesthenic syndrome v2.11	ALG2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Congenital myasthenic syndromes;Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228;Congenital disorder of glycosylation CDG type Ii, 607906
22 Mar 2021	Congenital myaesthenic syndrome v2.11	ALG2	Ivone Leong Phenotypes for gene: ALG2 were changed from Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228; Congenital disorder of glycosylation CDG type Ii, 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
22 Mar 2021	Congenital myaesthenic syndrome v2.10	ALG14	Ivone Leong Phenotypes for gene: ALG14 were changed from Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
22 Mar 2021	Congenital myaesthenic syndrome v2.9	AGRN	Ivone Leong Phenotypes for gene: AGRN were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
22 Mar 2021	Cystic kidney disease v2.23	FLCN	Daniel Gale gene: FLCN was added gene: FLCN was added to Cystic kidney disease. Sources: Literature,Expert Review Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLCN were set to PMID: 19785621; 31266032 Phenotypes for gene: FLCN were set to renal cysts; cutaneous fibrofolliculoma; pneumothorax; pulmonary cysts; renal cell carcinoma; renal oncocytoma Penetrance for gene: FLCN were set to Incomplete Review for gene: FLCN was set to GREEN Added comment: Birt Hogg Dube syndrome (caused by variants in FLCN) is frequently associated with multiple renal cysts, without renal enlargement or progressive CKD. Previous published data indicate simple renal cysts present in 31-45% (PMID: 31266032;19785621) of patients with BHD and audit of 20 patients I follow up revealed simple renal cysts in 11 (multiple in 9 of these individuals) i.e. similar to the literature. Therefore BHD should be considered in the differential diagnosis of multiple renal cysts (without renal enlargement). Sources: Literature, Expert Review
21 Mar 2021	Paediatric motor neuronopathies v1.62	DCTN1	Dmitrijs Rots Deleted their review
21 Mar 2021	Paediatric motor neuronopathies v1.62	DCTN1	Dmitrijs Rots reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Mar 2021	TEST_OCT_2020_1 v0.7	ALX1	Tracy Lester reviewed gene: ALX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal dysplasia type 3 613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
20 Mar 2021	TEST_OCT_2020_1 v0.7	AGA	Tracy Lester reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Mar 2021	TEST_OCT_2020_1 v0.6	ALX1	Eleanor Williams gene: ALX1 was added gene: ALX1 was added to TEST_OCT_2020_1. Sources: Literature Mode of inheritance for gene: ALX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Mar 2021	TEST_OCT_2020_1 v0.5	AGA	Eleanor Williams gene: AGA was added gene: AGA was added to TEST_OCT_2020_1. Sources: Literature Mode of inheritance for gene: AGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Mar 2021	Hydrocephalus v2.11	EEF2	Eleanor Williams Tag Q2_21_rating tag was added to gene: EEF2.
20 Mar 2021	Hydrocephalus v2.11	EEF2	Eleanor Williams Classified gene: EEF2 as Amber List (moderate evidence)
20 Mar 2021	Hydrocephalus v2.11	EEF2	Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation of a green rating at the next GMS review. 3 cases reported with macrocephaly associated with ventriculomegaly. Recommended for addition to the panel by Genomics England clinician.
20 Mar 2021	Hydrocephalus v2.11	EEF2	Eleanor Williams Gene: eef2 has been classified as Amber List (Moderate Evidence).
20 Mar 2021	Hydrocephalus v2.10	EEF2	Eleanor Williams gene: EEF2 was added gene: EEF2 was added to Hydrocephalus. Sources: Literature Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EEF2 were set to 33355653 Phenotypes for gene: EEF2 were set to hydrocephaly Review for gene: EEF2 was set to GREEN Added comment: PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly (benign hydrocephaly) Sources: Literature
20 Mar 2021	Hydrocephalus v2.9	KIDINS220	Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
20 Mar 2021	Hydrocephalus v2.9	KIDINS220	Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
20 Mar 2021	Hydrocephalus v2.9	KIDINS220	Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported. Added to panel at recommendation of Genomics England clinician.
20 Mar 2021	Hydrocephalus v2.9	KIDINS220	Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
20 Mar 2021	Hydrocephalus v2.8	KIDINS220	Eleanor Williams gene: KIDINS220 was added gene: KIDINS220 was added to Hydrocephalus. Sources: Literature Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169 Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures Review for gene: KIDINS220 was set to GREEN Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant. PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations. Sources: Literature
20 Mar 2021	Arthrogryposis v3.76	KIDINS220	Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
20 Mar 2021	Arthrogryposis v3.76	KIDINS220	Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
20 Mar 2021	Arthrogryposis v3.76	KIDINS220	Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported plus a supportive mouse model.
20 Mar 2021	Arthrogryposis v3.76	KIDINS220	Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
20 Mar 2021	Arthrogryposis v3.75	KIDINS220	Eleanor Williams gene: KIDINS220 was added gene: KIDINS220 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169 Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures Review for gene: KIDINS220 was set to GREEN Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant. PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations. Sources: Literature
20 Mar 2021	Fetal anomalies v1.636	KIDINS220	Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to Biallelic with a recommendation for a green rating for this mode of inhertiance as there are now 3 cases with biallelic inheritance and a fetal phenotype.
20 Mar 2021	Fetal anomalies v1.636	KIDINS220	Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
19 Mar 2021	Structural eye disease v1.52	COL6A3	Ivone Leong Classified gene: COL6A3 as Amber List (moderate evidence)
19 Mar 2021	Structural eye disease v1.52	COL6A3	Ivone Leong Gene: col6a3 has been classified as Amber List (Moderate Evidence).
19 Mar 2021	Structural eye disease v1.51	COL6A3	Ivone Leong gene: COL6A3 was added gene: COL6A3 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 33304895 Phenotypes for gene: COL6A3 were set to Peters anomaly Review for gene: COL6A3 was set to AMBER Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. Zornitza's review on the Cataracts panel (Version 2.66) "Not sure if this is the right panel for Peters anomaly. Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data. Sources: Literature Zornitza Stark (Australian Genomics), 7 Jan 2021" There is currently not enough evidence to support a gene-disease association, so this gene has been given an Amber rating. Sources: Literature
19 Mar 2021	Cataracts v2.66	COL6A3	Ivone Leong Classified gene: COL6A3 as Red List (low evidence)
19 Mar 2021	Cataracts v2.66	COL6A3	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene has been given a Red rating as this phenotype is not appropriate for this panel. This gene has been added to the Structural eye disease panel (panel ID: 509).
19 Mar 2021	Cataracts v2.66	COL6A3	Ivone Leong Gene: col6a3 has been classified as Red List (Low Evidence).
19 Mar 2021	Disorders of sex development v2.45	FGFR2	Ivone Leong Tag Q2_21_expert_review tag was added to gene: FGFR2.
19 Mar 2021	Disorders of sex development v2.45	FGFR2	Ivone Leong Classified gene: FGFR2 as Amber List (moderate evidence)
19 Mar 2021	Disorders of sex development v2.45	FGFR2	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. After consulting with the Genomics England Clinical Team, it was decided that this gene should be rated Amber. Helen Brittain (Genomics England): "In the fetal cases the potential DSD phentoype is very mild and eclipsed by the skeletal / craniosynostosis presentation."
19 Mar 2021	Disorders of sex development v2.45	FGFR2	Ivone Leong Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
18 Mar 2021	Structural eye disease v1.50	CRYAA	Ivone Leong Phenotypes for gene: CRYAA were changed from Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 to Cataract 9, multiple types, OMIM:604219; Anterior segment dysgenesis, MONDO:0019503; microphthalmia, MONDO:0021129
18 Mar 2021	Structural eye disease v1.49	CRYAA	Ivone Leong Added comment: Comment on publications: New publication added by Zornitza Stark (Australian Genomics)
18 Mar 2021	Structural eye disease v1.49	CRYAA	Ivone Leong Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
18 Mar 2021	Leber hereditary optic neuropathy v1.9	DNAJC30	Ivone Leong Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy; LHON-like to Leber hereditary optic neuropathy, MONDO:0010788; LHON-like
18 Mar 2021	Leber hereditary optic neuropathy v1.8	DNAJC30	Ivone Leong Classified gene: DNAJC30 as Amber List (moderate evidence)
18 Mar 2021	Leber hereditary optic neuropathy v1.8	DNAJC30	Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
18 Mar 2021	Leber hereditary optic neuropathy v1.8	DNAJC30	Ivone Leong Gene: dnajc30 has been classified as Amber List (Moderate Evidence).
18 Mar 2021	Leber hereditary optic neuropathy v1.7	DNAJC30	Ivone Leong Tag watchlist was removed from gene: DNAJC30. Tag Q2_21_rating tag was added to gene: DNAJC30. Tag Q2_21_NHS_review tag was added to gene: DNAJC30.
18 Mar 2021	Disorders of sex development v2.44	NR3C1	Ivone Leong Publications for gene: NR3C1 were set to 30158362; 31995340; 19933394; 7683692; 11932321; 31145715
18 Mar 2021	Disorders of sex development v2.43	NR3C1	Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia. There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715). There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia. There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
18 Mar 2021	Disorders of sex development v2.43	NR3C1	Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Mar 2021	Disorders of sex development v2.42	NR3C1	Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
18 Mar 2021	Disorders of sex development v2.41	NR3C1	Ivone Leong Mode of inheritance for gene: NR3C1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
18 Mar 2021	Disorders of sex development v2.40	NR3C1	Ivone Leong Publications for gene: NR3C1 were set to 30158362
18 Mar 2021	Disorders of sex development v2.39	NR3C1	Ivone Leong Classified gene: NR3C1 as Amber List (moderate evidence)
18 Mar 2021	Disorders of sex development v2.39	NR3C1	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia. There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715). There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
18 Mar 2021	Disorders of sex development v2.39	NR3C1	Ivone Leong Gene: nr3c1 has been classified as Amber List (Moderate Evidence).
18 Mar 2021	Disorders of sex development v2.38	NR3C1	Ivone Leong Tag Q2_21_rating tag was added to gene: NR3C1.
18 Mar 2021	Disorders of sex development v2.38	NR3C1	Ivone Leong Phenotypes for gene: NR3C1 were changed from Glucocorticoid resistance (MIM#615962) to Glucocorticoid resistance, OMIM:615962
18 Mar 2021	Paediatric motor neuronopathies v1.62	VAPB	Ivone Leong Phenotypes for gene: VAPB were changed from Spinal muscular atrophy, late-onset, Finkel type 182980; Amyotrophic lateral sclerosis 8 608627 to Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980; Amyotrophic lateral sclerosis 8, OMIM:608627
18 Mar 2021	Paediatric motor neuronopathies v1.61	SETX	Ivone Leong Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
18 Mar 2021	Paediatric motor neuronopathies v1.60	REEP1	Ivone Leong Phenotypes for gene: REEP1 were changed from ?Neuronopathy, distal hereditary motor, type VB 614751 to ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751
18 Mar 2021	Paediatric motor neuronopathies v1.59	HSPB8	Ivone Leong Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor, type IIA, OMIM:158590
18 Mar 2021	Paediatric motor neuronopathies v1.58	HSPB8	Ivone Leong Publications for gene: HSPB8 were set to 15122253
18 Mar 2021	Paediatric motor neuronopathies v1.57	HSPB1	Ivone Leong Phenotypes for gene: HSPB1 were changed from to Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
18 Mar 2021	Paediatric motor neuronopathies v1.56	EXOSC8	Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081; neuronopathy, distal hereditary motor, MONDO:0000075
18 Mar 2021	Paediatric motor neuronopathies v1.55	EXOSC8	Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
18 Mar 2021	Paediatric motor neuronopathies v1.55	EXOSC8	Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C 616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
18 Mar 2021	Paediatric motor neuronopathies v1.54	ATP7A	Ivone Leong Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
18 Mar 2021	Paediatric motor neuronopathies v1.53	ATP7A	Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 to Menkes disease, OMIM:309400; Occipital horn syndrome, OMIM:304150; Spinal muscular atrophy, distal, X-linked 3, OMIM:300489
18 Mar 2021	Paediatric motor neuronopathies v1.52	ALS2	Ivone Leong Phenotypes for gene: ALS2 were changed from juvenile amyotrophic lateral sclerosis-2, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Spastic paralysis, infantile onset ascending, OMIM:607225
18 Mar 2021	Paediatric motor neuronopathies v1.51	VRK1	Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, OMIM:607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
18 Mar 2021	Paediatric motor neuronopathies v1.51	VRK1	Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A 607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
18 Mar 2021	Paediatric motor neuronopathies v1.50	UBA1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Infantile Spinal Muscular Atrophy, X-Linked;Spinal muscular atrophy, X-linked 2, infantile, 301830
18 Mar 2021	Paediatric motor neuronopathies v1.50	UBA1	Ivone Leong Phenotypes for gene: UBA1 were changed from Infantile Spinal Muscular Atrophy, X-Linked; Spinal muscular atrophy, X-linked 2, infantile, 301830 to Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
18 Mar 2021	Paediatric motor neuronopathies v1.49	UBA1	Ivone Leong Publications for gene: UBA1 were set to PMID: 23518311
18 Mar 2021	Paediatric motor neuronopathies v1.48	TRPV4	Ivone Leong Phenotypes for gene: TRPV4 were changed from Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500 to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, OMIM:113500
18 Mar 2021	Paediatric motor neuronopathies v1.47	SPG11	Ivone Leong Phenotypes for gene: SPG11 were changed from Amyotrophic lateral sclerosis 5, juvenile 602099 to Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
18 Mar 2021	Paediatric motor neuronopathies v1.46	SMN1	Ivone Leong Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150 to Spinal muscular atrophy 1, OMIM:253300; Spinal muscular atrophy 2, OMIM:253550; Spinal muscular atrophy 3, OMIM:253400; Spinal muscular atrophy 4, OMIM:271150
18 Mar 2021	Paediatric motor neuronopathies v1.45	SLC52A3	Ivone Leong Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
18 Mar 2021	Paediatric motor neuronopathies v1.44	SLC52A2	Ivone Leong Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707
18 Mar 2021	Paediatric motor neuronopathies v1.43	IGHMBP2	Ivone Leong Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress, 604320 to Neuronopathy, distal hereditary motor, type VI, OMIM:604320
18 Mar 2021	Paediatric motor neuronopathies v1.42	EXOSC3	Ivone Leong Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
18 Mar 2021	Paediatric motor neuronopathies v1.41	DYNC1H1	Ivone Leong Phenotypes for gene: DYNC1H1 were changed from Spinal muscular atrophy, lower extremity-predominant, AD, 158600 to Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
18 Mar 2021	Paediatric motor neuronopathies v1.40	CHCHD10	Ivone Leong Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type 615048 to Spinal muscular atrophy, Jokela type, OMIM:615048
18 Mar 2021	Paediatric motor neuronopathies v1.39	BICD2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
18 Mar 2021	Paediatric motor neuronopathies v1.39	BICD2	Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
18 Mar 2021	Paediatric motor neuronopathies v1.38	BICD2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
18 Mar 2021	Paediatric motor neuronopathies v1.38	BICD2	Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
18 Mar 2021	Paediatric motor neuronopathies v1.37	ASAH1	Ivone Leong Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 to Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
18 Mar 2021	Paediatric motor neuronopathies v1.36	AR	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
18 Mar 2021	Paediatric motor neuronopathies v1.36	AR	Ivone Leong Phenotypes for gene: AR were changed from Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
18 Mar 2021	Ehlers Danlos syndromes v2.57	PIEZO2	Ivone Leong Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, 248700; Connective tissue disorder to ?Marden-Walker syndrome, OMIM:248700; connective tissue disease, MONDO:0003900
18 Mar 2021	Ehlers Danlos syndromes v2.56	NOTCH1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Connective Tissue Disorders;Aortic valve disease 1, 109730;Familial thoracic aortic aneurysm;Bicuspid, or bicommissural, aortic valve (BAV)
18 Mar 2021	Ehlers Danlos syndromes v2.56	NOTCH1	Ivone Leong Phenotypes for gene: NOTCH1 were changed from Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm; Bicuspid, or bicommissural, aortic valve (BAV) to connective tissue disease, MONDO:0003900
18 Mar 2021	Ehlers Danlos syndromes v2.55	MYLK	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Aortic aneurysm, familial thoracic 7, 613780;FTAA;Familial thoracic aortic aneurysm;aortic dissection with or without aortic aneurysm
18 Mar 2021	Ehlers Danlos syndromes v2.55	MYLK	Ivone Leong Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm to Aortic aneurysm, familial thoracic 7, OMIM:613780
18 Mar 2021	Ehlers Danlos syndromes v2.54	DCC	Ivone Leong Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
18 Mar 2021	Ehlers Danlos syndromes v2.53	ACTA2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Thoracic aortic aneurysm and dissection;Aortic aneurysm, familial thoracic 6;611788;Moyamoya disease 5;614042;Thoracic aneurysms congenital mydriasis;moya moya syndrome
18 Mar 2021	Ehlers Danlos syndromes v2.53	ACTA2	Ivone Leong Phenotypes for gene: ACTA2 were changed from Thoracic aortic aneurysm and dissection; Aortic aneurysm, familial thoracic 6; 611788; Moyamoya disease 5; 614042; Thoracic aneurysms congenital mydriasis; moya moya syndrome to Aortic aneurysm, familial thoracic 6, OMIM:611788
18 Mar 2021	Ehlers Danlos syndromes v2.52	ABL1	Ivone Leong Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, 617602 to Congenital heart defects and skeletal malformations syndrome, OMIM:617602
18 Mar 2021	Ehlers Danlos syndromes v2.51	ZNF469	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Brittle cornea syndrome 1, 229200;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
18 Mar 2021	Ehlers Danlos syndromes v2.51	ZNF469	Ivone Leong Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 1, OMIM:229200
18 Mar 2021	Ehlers Danlos syndromes v2.50	TNXB	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos syndrome due to tenascin X deficiency, 606408;Classical-like EDS;clEDS;Ehlers-Danlos syndrome, classic-like type
18 Mar 2021	Ehlers Danlos syndromes v2.50	TNXB	Ivone Leong Phenotypes for gene: TNXB were changed from Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; Classical-like EDS; clEDS; Ehlers-Danlos syndrome, classic-like type to Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408
18 Mar 2021	Ehlers Danlos syndromes v2.49	TGFBR2	Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome 2, 610168 to Loeys-Dietz syndrome 2, OMIM:610168
18 Mar 2021	Ehlers Danlos syndromes v2.48	TGFBR1	Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome 1, 609192 to Loeys-Dietz syndrome 1, OMIM:609192
18 Mar 2021	Ehlers Danlos syndromes v2.47	TGFB3	Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome 5, OMIM:615582
18 Mar 2021	Ehlers Danlos syndromes v2.46	TGFB2	Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4, 614816 to Loeys-Dietz syndrome 4, OMIM:614816
18 Mar 2021	Ehlers Danlos syndromes v2.45	SMAD3	Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome 3, 613795 to Loeys-Dietz syndrome 3, OMIM:613795
18 Mar 2021	Ehlers Danlos syndromes v2.44	SMAD2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Loeys-Dietz syndrome;LDS3;arterial aneurysms and dissections
18 Mar 2021	Ehlers Danlos syndromes v2.44	SMAD2	Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome; LDS3; arterial aneurysms and dissections to Loeys-Dietz syndrome, MONDO:0018954
18 Mar 2021	Ehlers Danlos syndromes v2.43	SLC39A13	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350;Spondylodysplastic EDS;spEDS-SLC39A13;Ehlers-Danlos Syndrome, Spondylodysplastic Type
18 Mar 2021	Ehlers Danlos syndromes v2.43	SLC39A13	Ivone Leong Phenotypes for gene: SLC39A13 were changed from Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type to Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350
18 Mar 2021	Ehlers Danlos syndromes v2.42	SKI	Ivone Leong Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, 182212 to Shprintzen-Goldberg syndrome, OMIM:182212
18 Mar 2021	Ehlers Danlos syndromes v2.41	ROBO3	Ivone Leong Phenotypes for gene: ROBO3 were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
18 Mar 2021	Ehlers Danlos syndromes v2.40	RIN2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075;RIN2 syndrome;MACS syndrome
18 Mar 2021	Ehlers Danlos syndromes v2.40	RIN2	Ivone Leong Phenotypes for gene: RIN2 were changed from Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
18 Mar 2021	Ehlers Danlos syndromes v2.39	PYCR1	Ivone Leong Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 to Cutis laxa, autosomal recessive, type IIIB, OMIM:614438; Cutis laxa, autosomal recessive, type IIB, OMIM:612940
18 Mar 2021	Ehlers Danlos syndromes v2.38	PRDM5	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Brittle cornea syndrome 2, 614170;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
18 Mar 2021	Ehlers Danlos syndromes v2.38	PRDM5	Ivone Leong Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 2, OMIM:614170
18 Mar 2021	Ehlers Danlos syndromes v2.37	PLOD1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome, type VI, 225400;Kyphoscoliotic EDS;kEDS-PLOD1;Ocular-Scoliotic EDS
18 Mar 2021	Ehlers Danlos syndromes v2.37	PLOD1	Ivone Leong Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS-PLOD1; Ocular-Scoliotic EDS to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
18 Mar 2021	Ehlers Danlos syndromes v2.36	LTBP4	Ivone Leong Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 to Cutis laxa, autosomal recessive, type IC, OMIM:613177
18 Mar 2021	Ehlers Danlos syndromes v2.35	LOX	Ivone Leong Phenotypes for gene: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
18 Mar 2021	Ehlers Danlos syndromes v2.34	GORAB	Ivone Leong Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 to Geroderma osteodysplasticum, OMIM:231070
18 Mar 2021	Ehlers Danlos syndromes v2.33	FKBP14	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557;Kyphoscoliotic EDS;kEDS-FKBP14;EDS VI;EDS VIA;Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
18 Mar 2021	Ehlers Danlos syndromes v2.33	FKBP14	Ivone Leong Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
18 Mar 2021	Ehlers Danlos syndromes v2.32	FBN2	Ivone Leong Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital, 121050 to Contractural arachnodactyly, congenital, OMIM:121050
18 Mar 2021	Ehlers Danlos syndromes v2.31	FBN1	Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome,154700 to Marfan syndrome, OMIM:154700
18 Mar 2021	Ehlers Danlos syndromes v2.30	FBLN5	Ivone Leong Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal dominant 2, 614434; Cutis laxa, autosomal recessive, type IA, 219100 to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
18 Mar 2021	Ehlers Danlos syndromes v2.29	ELN	Ivone Leong Phenotypes for gene: ELN were changed from Cutis laxa, AD, 123700 to Cutis laxa, autosomal dominant, OMIM:123700
18 Mar 2021	Ehlers Danlos syndromes v2.28	EFEMP2	Ivone Leong Phenotypes for gene: EFEMP2 were changed from Cutis laxa, autosomal recessive, type IB, 614437 to Cutis laxa, autosomal recessive, type IB, OMIM:614437
18 Mar 2021	Ehlers Danlos syndromes v2.27	DSE	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: ?Ehlers Danlos syndrome, musculocontractural type 2, 615539;EDSMC2;Musculocontractural EDS (mcEDS-DSE);EDS Musculocontractural type;DSE-deficient EDS
18 Mar 2021	Ehlers Danlos syndromes v2.27	DSE	Ivone Leong Phenotypes for gene: DSE were changed from ?Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE); EDS Musculocontractural type; DSE-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
18 Mar 2021	Ehlers Danlos syndromes v2.26	COL6A3	Ivone Leong Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
18 Mar 2021	Ehlers Danlos syndromes v2.25	COL6A2	Ivone Leong Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
18 Mar 2021	Ehlers Danlos syndromes v2.24	COL6A1	Ivone Leong Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
18 Mar 2021	Ehlers Danlos syndromes v2.23	COL5A2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
18 Mar 2021	Ehlers Danlos syndromes v2.23	COL5A2	Ivone Leong Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 2, OMIM:130010
18 Mar 2021	Ehlers Danlos syndromes v2.22	COL5A1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
18 Mar 2021	Ehlers Danlos syndromes v2.22	COL5A1	Ivone Leong Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
18 Mar 2021	Ehlers Danlos syndromes v2.21	COL3A1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers Danlos syndrome, type IV, 130050;Vascular EDS;vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome
18 Mar 2021	Ehlers Danlos syndromes v2.21	COL3A1	Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome to Ehlers-Danlos syndrome, vascular type, OMIM:130050
18 Mar 2021	Ehlers Danlos syndromes v2.20	COL1A2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers Danlos syndrome, type VIIB (AD), 130060;Ehlers-Danlos Syndrome, Arthrochalasia Type;Arthrochalasia EDS;aEDS;Ehlers Danlos syndrome, cardiac valvular form (AR), 225320;Cardiac-valvular EDS;cvEDS
18 Mar 2021	Ehlers Danlos syndromes v2.20	COL1A2	Ivone Leong Phenotypes for gene: COL1A2 were changed from Ehlers Danlos syndrome, type VIIB (AD), 130060; Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821; Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
18 Mar 2021	Ehlers Danlos syndromes v2.19	COL1A1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos syndrome, classic type, 130000;Classical EDS (rare);cEDS;Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;Vascular EDS (rare);vEDS
18 Mar 2021	Ehlers Danlos syndromes v2.19	COL1A1	Ivone Leong Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
18 Mar 2021	Ehlers Danlos syndromes v2.18	COL12A1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Myopathic EDS;mEDS;EDS/Myopathy overlap syndrome;Ehlers-Danlos syndrome, Myopathic type
18 Mar 2021	Ehlers Danlos syndromes v2.18	COL12A1	Ivone Leong Phenotypes for gene: COL12A1 were changed from Myopathic EDS; mEDS; EDS/Myopathy overlap syndrome; Ehlers-Danlos syndrome, Myopathic type to Bethlem myopathy 2, OMIM:616471
18 Mar 2021	Ehlers Danlos syndromes v2.17	CHST14	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers Danlos syndrome, musculocontractural type 1, 601776;EDSMC1;Musculocontractural EDS;mcEDS-CHST14;Adducted thumb-club foot syndrome (ATCS);EDS Kosho type (EDS-KT);D4ST1-deficient EDS
18 Mar 2021	Ehlers Danlos syndromes v2.17	CHST14	Ivone Leong Phenotypes for gene: CHST14 were changed from Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS; mcEDS-CHST14; Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT); D4ST1-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776
18 Mar 2021	Ehlers Danlos syndromes v2.16	CBS	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Homocystinuria, B6-responsive and nonresponsive types, 236200;Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic
18 Mar 2021	Ehlers Danlos syndromes v2.16	CBS	Ivone Leong Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency; Homocystinuria; Thrombosis, hyperhomocysteinemic to Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200
18 Mar 2021	Ehlers Danlos syndromes v2.15	C1S	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos syndrome periodontal type 2, 617174;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII
18 Mar 2021	Ehlers Danlos syndromes v2.15	C1S	Ivone Leong Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome periodontal type 2, 617174; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII to Ehlers-Danlos syndrome, periodontal type, 2, OMIM:617174
18 Mar 2021	Ehlers Danlos syndromes v2.14	C1R	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos syndrome periodontal type 1, 130080;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII;Ehlers-Danlos Syndrome periodontitis type;EDSVIII;EDSPD1
18 Mar 2021	Ehlers Danlos syndromes v2.14	C1R	Ivone Leong Phenotypes for gene: C1R were changed from Ehlers-Danlos syndrome periodontal type 1, 130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers-Danlos Syndrome periodontitis type; EDSVIII; EDSPD1 to Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
18 Mar 2021	Ehlers Danlos syndromes v2.13	BGN	Ivone Leong Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 to Meester-Loeys syndrome, OMIM:300989
18 Mar 2021	Ehlers Danlos syndromes v2.12	B4GALT7	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS;spEDS-B4GALT7;Progeroid EDS;Spondylodysplastic EDS due to B4GALT7-deficiency;EDS progeroid type;Ehlers Danlos syndrome, progeroid type 1
18 Mar 2021	Ehlers Danlos syndromes v2.12	B4GALT7	Ivone Leong Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS; spEDS-B4GALT7; Progeroid EDS; Spondylodysplastic EDS due to B4GALT7-deficiency; EDS progeroid type; Ehlers Danlos syndrome, progeroid type 1 to Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070
18 Mar 2021	Ehlers Danlos syndromes v2.11	B3GALT6	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers Danlos syndrome, progeroid type, 2, 615349;Spondylodysplastic EDS;spEDS-B3GALT6;Progeroid EDS;Spondylodysplastic EDS due to B3GALT6-deficiency;EDS progeroid type 2;EDS B3GALT6
18 Mar 2021	Ehlers Danlos syndromes v2.11	B3GALT6	Ivone Leong Phenotypes for gene: B3GALT6 were changed from Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS; spEDS-B3GALT6; Progeroid EDS; Spondylodysplastic EDS due to B3GALT6-deficiency; EDS progeroid type 2; EDS B3GALT6 to Ehlers-Danlos syndrome, spondylodysplastic type, 2, OMIM:615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, OMIM:271640
18 Mar 2021	Ehlers Danlos syndromes v2.10	ATP7A	Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Menkes disease, OMIM:309400, Connective Tissues Disorders and Cutis laxa
18 Mar 2021	Ehlers Danlos syndromes v2.10	ATP7A	Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400; Occipital horn syndrome, 304150; Connective Tissues Disorders; Cutis laxa to Occipital horn syndrome, OMIM:304150
18 Mar 2021	Ehlers Danlos syndromes v2.9	ATP6V1A	Ivone Leong Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID, 617403 to Cutis laxa, autosomal recessive, type IID, OMIM:617403
18 Mar 2021	Ehlers Danlos syndromes v2.8	ATP6V0A2	Ivone Leong Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 to Cutis laxa, autosomal recessive, type IIA, OMIM:219200; Wrinkly skin syndrome, OMIM:278250
18 Mar 2021	Ehlers Danlos syndromes v2.7	ALDH18A1	Ivone Leong Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603 to Cutis laxa, autosomal recessive, type IIIA, OMIM:219150; Cutis laxa, autosomal dominant 3, OMIM:616603
18 Mar 2021	Ehlers Danlos syndromes v2.6	AEBP1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos syndrome type;EDS type;Part of the EDS spectrum
18 Mar 2021	Ehlers Danlos syndromes v2.6	AEBP1	Ivone Leong Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome type; EDS type; Part of the EDS spectrum to Ehlers-Danlos syndrome, classic-like, 2, OMIM:618000
18 Mar 2021	Ehlers Danlos syndromes v2.5	ADAMTS2	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers Danlos syndrome, type VIIC, 225410;Ehlers-Danlos Syndrome, Dermatosparaxis Type;Dermatosparaxis EDS;dEDS;EDSVIIC;EDS7C
18 Mar 2021	Ehlers Danlos syndromes v2.5	ADAMTS2	Ivone Leong Phenotypes for gene: ADAMTS2 were changed from Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS; EDSVIIC; EDS7C to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh edited their review of gene: CLCN6: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three de novo occurrances of a single variant reported.; Changed rating: GREEN
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh Tag Q2_21_rating tag was added to gene: CLCN6.
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh Classified gene: CLCN6 as Amber List (moderate evidence)
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.23	CLCN6	Sarah Leigh Gene: clcn6 has been classified as Amber List (Moderate Evidence).
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.22	CLCN6	Sarah Leigh Mode of inheritance for gene: CLCN6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.21	CLCN6	Sarah Leigh Added comment: Comment on phenotypes: There is no Mondo term for this phenotype at present
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.21	CLCN6	Sarah Leigh Phenotypes for gene: CLCN6 were changed from to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.20	CLCN6	Sarah Leigh Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.19	GRN	Sarah Leigh Phenotypes for gene: GRN were changed from to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.18	TPP1	Sarah Leigh Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.17	PPT1	Sarah Leigh Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.16	MFSD8	Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.15	KCTD7	Sarah Leigh Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.14	DNAJC5	Sarah Leigh Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.13	CTSF	Sarah Leigh Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.12	CTSD	Sarah Leigh Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.11	CLN8	Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
17 Mar 2021	Lysosomal storage disorder v1.68	CLN8	Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.10	CLN8	Sarah Leigh Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.9	CLN6	Sarah Leigh Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
17 Mar 2021	Ocular coloboma v1.43	FZD5	Ivone Leong Classified gene: FZD5 as Green List (high evidence)
17 Mar 2021	Ocular coloboma v1.43	FZD5	Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. This gene is Amber on the Structural eye disease panel (Version 1.48) with the following review and a recommendation for this gene to be promoted to Green: "Liu et al identified a rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. Aubert-Mucca et al. 2020: novel variants in three independent families. Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m. Panel Version: 1.29 RH 1. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Liu et al Hum Mol Genet. 2016 Apr 1; 25(7): 13821391. Rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. UNFORNATELY, THERE ARE NO OTHER REPORTS, SO IT FALLS ONE GOOD MUTATION SHORT PF BEING GREEN. WOULD PROBABLY BE A GOOD AMBER OPTION, BUT I DON'T GET THAT OPTION IN THE RATING COLUMN... Created: 19 Jun 2019, 3:32 p.m." There is enough evidence for this gene to be Green.
17 Mar 2021	Ocular coloboma v1.43	FZD5	Ivone Leong Gene: fzd5 has been classified as Green List (High Evidence).
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.8	CLN5	Sarah Leigh Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.7	CLN3	Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.6	ATP13A2	Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975 to Kufor-Rakeb syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
17 Mar 2021	Cataracts v2.65	NSUN2	Ivone Leong Classified gene: NSUN2 as Red List (low evidence)
17 Mar 2021	Cataracts v2.65	NSUN2	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.
17 Mar 2021	Cataracts v2.65	NSUN2	Ivone Leong Gene: nsun2 has been classified as Red List (Low Evidence).
17 Mar 2021	Cataracts v2.64	NSUN2	Ivone Leong Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, MIM# 611091; cataracts to Mental retardation, autosomal recessive 5, OMIM:611091; cataracts
17 Mar 2021	Neuronal ceroid lipofuscinosis v1.5	ATP13A2	Sarah Leigh Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
17 Mar 2021	Disorders of sex development v2.37	MYRF	Ivone Leong Classified gene: MYRF as Amber List (moderate evidence)
17 Mar 2021	Disorders of sex development v2.37	MYRF	Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association and this gene should be promoted to Green at the next review.
17 Mar 2021	Disorders of sex development v2.37	MYRF	Ivone Leong Gene: myrf has been classified as Amber List (Moderate Evidence).
17 Mar 2021	Disorders of sex development v2.36	MYRF	Ivone Leong Tag Q2_21_rating tag was added to gene: MYRF.
17 Mar 2021	Disorders of sex development v2.36	MYRF	Ivone Leong Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia to Cardiac-urogenital syndrome, OMIM:618280; gonadal hypoplasia; Mullerian duct hypoplasia
17 Mar 2021	Disorders of sex development v2.35	ESR2	Ivone Leong Classified gene: ESR2 as Amber List (moderate evidence)
17 Mar 2021	Disorders of sex development v2.35	ESR2	Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
17 Mar 2021	Disorders of sex development v2.35	ESR2	Ivone Leong Gene: esr2 has been classified as Amber List (Moderate Evidence).
17 Mar 2021	Disorders of sex development v2.34	ESR2	Ivone Leong Tag watchlist tag was added to gene: ESR2.
17 Mar 2021	Disorders of sex development v2.34	ESR2	Ivone Leong Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187 to 46,XY disorder of sex development, MONDO:0020040; ?Ovarian dysgenesis 8, OMIM:618187
17 Mar 2021	Disorders of sex development v2.33	ESR2	Ivone Leong Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187 to 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.29	PDP2	Sarah Leigh Deleted their comment
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.29	PDP2	Sarah Leigh changed review comment from: Comment on phenotypes: There is no formal gene / disease association for PDP2.; to: Comment on phenotypes: There is no formal gene / disease association for PDP2, but pyruvate dehydrogenase deficiency MONDO:0019169 seemed a good generic phenotype for this gene.
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.29	PDP2	Sarah Leigh Added comment: Comment on phenotypes: There is no formal gene / disease association for PDP2.
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.29	PDP2	Sarah Leigh Phenotypes for gene: PDP2 were changed from to pyruvate dehydrogenase deficiency MONDO:0019169
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.28	TPK1	Sarah Leigh Phenotypes for gene: TPK1 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458; childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.27	SLC25A26	Sarah Leigh Phenotypes for gene: SLC25A26 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794; combined oxidative phosphorylation deficiency 28 MONDO:0014775
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.26	SLC25A19	Sarah Leigh Phenotypes for gene: SLC25A19 were changed from MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 to MICROCEPHALY, AMISH TYPEOMIM:607196; Amish lethal microcephaly MONDO:0011790; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710; progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.25	SLC19A3	Sarah Leigh Phenotypes for gene: SLC19A3 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) OMIM:607483; biotin-responsive basal ganglia disease MONDO:0011841
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.24	SLC19A2	Sarah Leigh Phenotypes for gene: SLC19A2 were changed from THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270 to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM:249270; thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.23	PDP1	Sarah Leigh Phenotypes for gene: PDP1 were changed from PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782; pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.22	PDHX	Sarah Leigh Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349 to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY OMIM:245349; pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.21	PDHB	Sarah Leigh Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.20	PDHA1	Sarah Leigh Phenotypes for gene: PDHA1 were changed from PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170; pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.19	NFU1	Sarah Leigh Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 OMIM:605711; multiple mitochondrial dysfunctions syndrome 1 MONDO:0011582
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.18	LONP1	Sarah Leigh Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 to CODAS syndrome OMIM:600373; CODAS syndrome MONDO:0010879
17 Mar 2021	Pneumothorax - familial v2.37	TGFB2	Ivone Leong Phenotypes for gene: TGFB2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 4, OMIM:614816
17 Mar 2021	Pneumothorax - familial v2.36	TGFB3	Ivone Leong Phenotypes for gene: TGFB3 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.17	LIPT2	Sarah Leigh Phenotypes for gene: LIPT2 were changed from ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668; encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562
17 Mar 2021	Pneumothorax - familial v2.35	TGFBR1	Ivone Leong Phenotypes for gene: TGFBR1 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
17 Mar 2021	Pneumothorax - familial v2.34	TGFBR2	Ivone Leong Phenotypes for gene: TGFBR2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168
17 Mar 2021	Pneumothorax - familial v2.33	SMAD3	Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
17 Mar 2021	Pneumothorax - familial v2.32	SMAD2	Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome,MONDO:0018954
17 Mar 2021	Pneumothorax - familial v2.31	TSC2	Ivone Leong Phenotypes for gene: TSC2 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 2, 613254 to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.16	LIPT1	Sarah Leigh Phenotypes for gene: LIPT1 were changed from LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 to LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299; lipoyl transferase 1 deficiency MONDO:0014576
17 Mar 2021	Pneumothorax - familial v2.30	TSC1	Ivone Leong Phenotypes for gene: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100 to Lymphangioleiomyomatosis, OMIM:606690; Tuberous sclerosis-1, OMIM:191100
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.15	ISCA2	Sarah Leigh Publications for gene: ISCA2 were set to
17 Mar 2021	Pneumothorax - familial v2.29	TGFBR2	Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168 to Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168
17 Mar 2021	Pneumothorax - familial v2.28	TGFBR1	Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 1, 609192 to Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192
17 Mar 2021	Pneumothorax - familial v2.27	TGFB3	Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582 to Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.14	ISCA2	Sarah Leigh Phenotypes for gene: ISCA2 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370; multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611
17 Mar 2021	Pneumothorax - familial v2.26	TGFB2	Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 4, 614816 to Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.13	ISCA1	Sarah Leigh Publications for gene: ISCA1 were set to 29767723; PMID: 28356563
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.12	ISCA1	Sarah Leigh Phenotypes for gene: ISCA1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613; multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282
17 Mar 2021	Pneumothorax - familial v2.25	SERPINA1	Ivone Leong Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency; Emphysema/cirrhosis due to AAT deficiency, 613490 to Emphysema due to AAT deficiency, OMIM:613490; Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.11	IBA57	Sarah Leigh Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM:615330; multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.10	HIBCH	Sarah Leigh Phenotypes for gene: HIBCH were changed from 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620; 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.9	GLRX5	Sarah Leigh Phenotypes for gene: GLRX5 were changed from SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA OMIM:616859; spasticity-ataxia-gait anomalies syndrome MONDO:0014803; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY OMIM:616860; sideroblastic anemia 3 MONDO:0014804
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.8	FBXL4	Sarah Leigh Phenotypes for gene: FBXL4 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.7	ECHS1	Sarah Leigh Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.6	DLD	Sarah Leigh Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY OMIM:246900; pyruvate dehydrogenase E3 deficiency MONDO:0009529
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.5	DLAT	Sarah Leigh Phenotypes for gene: DLAT were changed from PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348 to PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM:245348; pyruvate dehydrogenase E2 deficiency MONDO:0009502
17 Mar 2021	Pyruvate dehydrogenase (PDH) deficiency v1.4	BOLA3	Sarah Leigh Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA OMIM:614299; multiple mitochondrial dysfunctions syndrome 2 MONDO:0013675
17 Mar 2021	Non-acute porphyrias v1.21	GATA1	Sarah Leigh Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367; thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
17 Mar 2021	Pneumothorax - familial v2.24	FLCN	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Primary Spontaneous Pneumothorax, 173600;Birt-Hogg-Dube Syndrome, 135150;Birt-Hogg-Dube syndrome;Spontaneous Pneumothorax;Birt-Hogg-Dube Syndrome
17 Mar 2021	Pneumothorax - familial v2.24	FLCN	Ivone Leong Phenotypes for gene: FLCN were changed from Primary Spontaneous Pneumothorax, 173600; Birt-Hogg-Dube Syndrome, 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150
17 Mar 2021	Pneumothorax - familial v2.23	FBN1	Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome, 154700 to Marfan syndrome, OMIM:154700
17 Mar 2021	Non-acute porphyrias v1.20	UROS	Sarah Leigh Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) to Porphyria, congenital erythropoietic OMIM:263700; cutaneous porphyria MONDO:0009902
17 Mar 2021	Pneumothorax - familial v2.22	COL3A1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Ehlers-Danlos Syndrome, type IV;Ehlers-Danlos syndrome, vascular type, 130050
17 Mar 2021	Pneumothorax - familial v2.22	COL3A1	Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
17 Mar 2021	Non-acute porphyrias v1.19	UROS	Sarah Leigh Publications for gene: UROS were set to 27604308
17 Mar 2021	Pneumothorax - familial v2.21	COL3A1	Ivone Leong Publications for gene: COL3A1 were set to 26666608; 25940258; 9147885 (review); 7369469
17 Mar 2021	Non-acute porphyrias v1.18	UROD	Sarah Leigh Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296
17 Mar 2021	Surfactant deficiency v1.9	SFTPA2	Ivone Leong Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500
17 Mar 2021	Surfactant deficiency v1.8	SFTPC	Ivone Leong Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913
17 Mar 2021	Surfactant deficiency v1.7	SFTPB	Ivone Leong Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120
17 Mar 2021	Surfactant deficiency v1.6	NKX2-1	Ivone Leong Phenotypes for gene: NKX2-1 were changed from Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
17 Mar 2021	Surfactant deficiency v1.5	ABCA3	Ivone Leong Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary 3, 610921 to Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921
17 Mar 2021	Non-acute porphyrias v1.17	UROD	Sarah Leigh Publications for gene: UROD were set to 27604308
17 Mar 2021	Skeletal muscle channelopathy v1.21	SCN4A	Eleanor Williams commented on gene: SCN4A
17 Mar 2021	Non-acute porphyrias v1.16	PPOX	Sarah Leigh Phenotypes for gene: PPOX were changed from Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 to Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297
17 Mar 2021	Severe early-onset obesity v2.37	TUB	Ivone Leong Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, 616188 to ?Retinal dystrophy and obesity, OMIM:616188
17 Mar 2021	Severe early-onset obesity v2.36	SH2B1	Ivone Leong Phenotypes for gene: SH2B1 were changed from obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency to obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
17 Mar 2021	Severe early-onset obesity v2.35	INPP5E	Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Joubert syndrome 1, OMIM:213300
17 Mar 2021	Severe early-onset obesity v2.35	INPP5E	Ivone Leong Phenotypes for gene: INPP5E were changed from Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Joubert syndrome 1, 213300 to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
17 Mar 2021	Severe early-onset obesity v2.34	CEP290	Ivone Leong Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
17 Mar 2021	Severe early-onset obesity v2.33	VPS13B	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Obesity;Cohen syndrome, OMIM:216550;Cohen syndrome;Truncal obesity developing in mid-childhood
17 Mar 2021	Severe early-onset obesity v2.33	VPS13B	Ivone Leong Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, 216550; Cohen syndrome; Truncal obesity developing in mid-childhood to Obesity; Cohen syndrome, OMIM:216550
17 Mar 2021	Severe early-onset obesity v2.32	TTC8	Ivone Leong Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, 615985; Bardet-Biedl syndrome 8 to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
17 Mar 2021	Severe early-onset obesity v2.31	SIM1	Ivone Leong Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity
17 Mar 2021	Non-acute porphyrias v1.15	HMBS	Sarah Leigh Publications for gene: HMBS were set to 27604308
17 Mar 2021	Non-acute porphyrias v1.14	HMBS	Sarah Leigh Phenotypes for gene: HMBS were changed from Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294
17 Mar 2021	Severe early-onset obesity v2.30	SIM1	Ivone Leong Added comment: Comment on publications: 25805767;24814368 (functional evidence);24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet;24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type;23778139 - case-control study, variable penetrance of the variants in extended family studies;23778136;16924270
17 Mar 2021	Severe early-onset obesity v2.30	SIM1	Ivone Leong Publications for gene: SIM1 were set to 25805767; 24814368 (functional evidence); 24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet; 24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type; 23778139 - case-control study, variable penetrance of the variants in extended family studies; 23778136; 16924270
17 Mar 2021	Severe early-onset obesity v2.29	SDCCAG8	Ivone Leong Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16; Bardet-Biedl syndrome 16, 615993 to Obesity; Bardet-Biedl syndrome 16, OMIM:615993
17 Mar 2021	Severe early-onset obesity v2.28	POMC	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: {Obesity, early-onset, susceptibility to}, 601665;Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734;Congenital Obesity;{Obesity, early-onset, susceptibility to}, 601665
17 Mar 2021	Severe early-onset obesity v2.28	POMC	Ivone Leong Phenotypes for gene: POMC were changed from {Obesity, early-onset, susceptibility to}, 601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; Congenital Obesity; {Obesity, early-onset, susceptibility to}, 601665 to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
17 Mar 2021	Non-acute porphyrias v1.13	FECH	Sarah Leigh Phenotypes for gene: FECH were changed from Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 to Protoporphyria, erythropoietic,1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
17 Mar 2021	Skeletal muscle channelopathy v1.21	CACNA1S	Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant) to Congenital myopathy, MONDO:0019952; Hypokalaemic periodic paralysis, type I, OMIM:170400
17 Mar 2021	Skeletal muscle channelopathy v1.20	CACNA1S	Eleanor Williams commented on gene: CACNA1S
17 Mar 2021	Non-acute porphyrias v1.12	CPOX	Sarah Leigh Deleted their comment
17 Mar 2021	Non-acute porphyrias v1.12	CPOX	Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria OMIM:618892; harderoporphyria MONDO:0030048; Coproporphyria OMIM:121300; hereditary coproporphyria MONDO:0007369
17 Mar 2021	Non-acute porphyrias v1.11	CPOX	Sarah Leigh Added comment: Comment on phenotypes: Harderoporphyria OMIM:618892;harderoporphyria MONDO:0030048;Coproporphyria OMIM:121300;hereditary coproporphyria MONDO:0007369
17 Mar 2021	Non-acute porphyrias v1.11	CPOX	Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)
17 Mar 2021	Non-acute porphyrias v1.10	CPOX	Sarah Leigh Publications for gene: CPOX were set to 27604308
17 Mar 2021	Non-acute porphyrias v1.9	ALAS2	Sarah Leigh Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked OMIM:300752; X-linked erythropoietic protoporphyria MONDO:0010420; Anemia, sideroblastic, X-linked OMIM:300751; X-linked sideroblastic anemia 1 MONDO:0020721
17 Mar 2021	Non-acute porphyrias v1.8	ALAD	Sarah Leigh Publications for gene: ALAD were set to 27604308
17 Mar 2021	Non-acute porphyrias v1.7	ALAD	Sarah Leigh Phenotypes for gene: ALAD were changed from Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) to Porphyria, acute hepatic OMIM:612740; porphyria due to ALA dehydratase deficiency MONDO:0013000
17 Mar 2021	Lysosomal storage disorder v1.67	VPS33A	Sarah Leigh Classified gene: VPS33A as Amber List (moderate evidence)
17 Mar 2021	Lysosomal storage disorder v1.67	VPS33A	Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).
17 Mar 2021	Lysosomal storage disorder v1.67	VPS33A	Sarah Leigh Gene: vps33a has been classified as Amber List (Moderate Evidence).
17 Mar 2021	Lysosomal storage disorder v1.66	VPS33A	Sarah Leigh Publications for gene: VPS33A were set to 28013294; 27547915
17 Mar 2021	Lysosomal storage disorder v1.65	VPS33A	Sarah Leigh Phenotypes for gene: VPS33A were changed from Mucopolysaccharidosis-plus syndrome (MIM#617303) to Mucopolysaccharidosis-plus syndrome OMIM:617303; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
17 Mar 2021	Lysosomal storage disorder v1.64	CTSF	Sarah Leigh Publications for gene: CTSF were set to 28749476; 27668283; 27524508
17 Mar 2021	Lysosomal storage disorder v1.63	CTSF	Sarah Leigh edited their review of gene: CTSF: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine variants reported in at least seven unrelated cases.; Changed rating: GREEN
17 Mar 2021	Lysosomal storage disorder v1.63	CTSF	Sarah Leigh Tag Q2_21_rating tag was added to gene: CTSF.
17 Mar 2021	Lysosomal storage disorder v1.63	CTSF	Sarah Leigh Classified gene: CTSF as Amber List (moderate evidence)
17 Mar 2021	Lysosomal storage disorder v1.63	CTSF	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
17 Mar 2021	Lysosomal storage disorder v1.63	CTSF	Sarah Leigh Gene: ctsf has been classified as Amber List (Moderate Evidence).
17 Mar 2021	Lysosomal storage disorder v1.62	CTSF	Sarah Leigh Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
16 Mar 2021	Skeletal muscle channelopathy v1.20	SLC2A1	Eleanor Williams Phenotypes for gene: SLC2A1 were changed from Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 to Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
16 Mar 2021	Skeletal muscle channelopathy v1.19	SCN4A	Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300; Congenital myopathy MONDO:0019952.
16 Mar 2021	Skeletal muscle channelopathy v1.18	SCN4A	Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952.
16 Mar 2021	Skeletal muscle channelopathy v1.17	SCN4A	Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
16 Mar 2021	Skeletal muscle channelopathy v1.16	SCN4A	Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 (613345); Dominant: Hyperkalemic periodic paralysis (170500); Paramyotonia congenita (168300). Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
16 Mar 2021	Skeletal muscle channelopathy v1.15	RYR1	Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant) to Central core disease, OMIM:117000 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
16 Mar 2021	Skeletal muscle channelopathy v1.14	RYR1	Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) to Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
16 Mar 2021	Skeletal muscle channelopathy v1.13	PYGM	Eleanor Williams Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600
16 Mar 2021	Lysosomal storage disorder v1.61	ATP13A2	Sarah Leigh Tag Q2_21_rating tag was added to gene: ATP13A2.
16 Mar 2021	Lysosomal storage disorder v1.61	ATP13A2	Sarah Leigh edited their review of gene: ATP13A2: Added comment: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene for Parkinson disease 9. At least five variants reported in at least five unrelated cases, together with supportive functional studies.; Changed rating: GREEN
16 Mar 2021	Skeletal muscle channelopathy v1.12	KCNA1	Eleanor Williams Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1/myokymia syndrome, 160120 to Episodic ataxia type 1/myokymia syndrome OMIM:160120
16 Mar 2021	Skeletal muscle channelopathy v1.11	CLCN1	Eleanor Williams Phenotypes for gene: CLCN1 were changed from Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 to Myotonia congenita, dominant OMIM:160800; Myotonia congenita, recessive OMIM:255700
16 Mar 2021	Skeletal muscle channelopathy v1.10	CACNA1S	Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) to Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant)
16 Mar 2021	Lysosomal storage disorder v1.61	ATP13A2	Sarah Leigh Classified gene: ATP13A2 as Amber List (moderate evidence)
16 Mar 2021	Lysosomal storage disorder v1.61	ATP13A2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
16 Mar 2021	Lysosomal storage disorder v1.61	ATP13A2	Sarah Leigh Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
16 Mar 2021	Lysosomal storage disorder v1.60	ATP13A2	Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, MIM# 617225 to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
16 Mar 2021	Lysosomal storage disorder v1.59	TPP1	Sarah Leigh Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2 204500 to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
16 Mar 2021	Lysosomal storage disorder v1.58	SUMF1	Sarah Leigh Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency OMIM:272200; mucosulfatidosis MONDO:0010088
16 Mar 2021	Lysosomal storage disorder v1.57	SMPD1	Sarah Leigh Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616 to Niemann-Pick disease, type A OMIM:257200; Niemann-Pick disease type A MONDO:0009756; Niemann-Pick disease, type B OMIM:607616; Niemann-Pick disease type B MONDO:0011871
16 Mar 2021	Lysosomal storage disorder v1.56	SLC17A5	Sarah Leigh Phenotypes for gene: SLC17A5 were changed from Salla disease 604369; Sialic acid storage disorder, infantile 269920 to Salla disease OMIM:604369; Salla disease MONDO:0011449; Sialic acid storage disorder, infantile OMIM:269920; free sialic acid storage disease, infantile form MONDO:0010027
16 Mar 2021	Lysosomal storage disorder v1.55	SGSH	Sarah Leigh Phenotypes for gene: SGSH were changed from Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 to Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900; Sanfilippo syndrome type A MONDO:0009655
16 Mar 2021	Lysosomal storage disorder v1.54	PSAP	Sarah Leigh Phenotypes for gene: PSAP were changed from Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900 to Krabbe disease, atypical OMIM:611722; Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720; Combined SAP deficiency OMIM:611721; encephalopathy due to prosaposin deficiency MONDO:0012719; Gaucher disease, atypical OMIM:610539; atypical Gaucher disease due to saposin C deficiency MONDO:0012517; Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900; metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
16 Mar 2021	Lysosomal storage disorder v1.53	PPT1	Sarah Leigh Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1 256730 to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
16 Mar 2021	Lysosomal storage disorder v1.52	NPC2	Sarah Leigh Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2 607625 to Niemann-pick disease, type C2 OMIM:607625; Niemann-Pick disease, type C2 MONDO:0011873
16 Mar 2021	Lysosomal storage disorder v1.51	NPC1	Sarah Leigh Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220 to Niemann-Pick disease, type D OMIM:257220; Niemann-Pick disease, type C1 OMIM:257220; Niemann-Pick disease, type C1 MONDO:0009757
16 Mar 2021	Lysosomal storage disorder v1.50	NEU1	Sarah Leigh Phenotypes for gene: NEU1 were changed from Sialidosis, type II 256550; Sialidosis, type I 256550 to Sialidosis, type II OMIM:256550; Sialidosis, type I OMIM:256550; sialidosis type 2 MONDO:0009738
16 Mar 2021	Lysosomal storage disorder v1.49	NAGLU	Sarah Leigh Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 to Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920; Sanfilippo syndrome type B MONDO:0009656
16 Mar 2021	Lysosomal storage disorder v1.48	NAGA	Sarah Leigh Phenotypes for gene: NAGA were changed from Schindler disease, type I 609241; Schindler disease, type III 609241 to Schindler disease, type I OMIM:609241; Schindler disease, type III OMIM:609241; alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221; Kanzaki disease OMIM:609242; alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222
16 Mar 2021	Severe early-onset obesity v2.27	PHF6	Ivone Leong Phenotypes for gene: PHF6 were changed from Obesity; Borjeson-Forssman-Lehmann syndrome, 301900; Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
16 Mar 2021	Severe early-onset obesity v2.26	PCSK1	Ivone Leong Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, 612362; Congenital Obesity; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 to {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
16 Mar 2021	Severe early-onset obesity v2.25	NTRK2	Ivone Leong Added comment: Comment on publications: 16702999 functional studies;27884935;29100083;24950379 GWAS found signals close to this gene associated with birth weight;26727462 association with physical activity score;26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference;15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
16 Mar 2021	Severe early-onset obesity v2.25	NTRK2	Ivone Leong Publications for gene: NTRK2 were set to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
16 Mar 2021	Severe early-onset obesity v2.24	NTRK2	Ivone Leong Phenotypes for gene: NTRK2 were changed from Obesity, hyperphagia, and developmental delay, 613886; Congenital Obesity to Obesity, hyperphagia, and developmental delay, OMIM:613886
16 Mar 2021	Severe early-onset obesity v2.23	MYT1L	Ivone Leong Added comment: Comment on publications: 26240977 - patient with normal weight at 4.5 years of age; 25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”;25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN);24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity;21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
16 Mar 2021	Severe early-onset obesity v2.23	MYT1L	Ivone Leong Publications for gene: MYT1L were set to 26240977 - patient with normal weight at 4.5 years of age; 25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”; 25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN); 24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity; 21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
16 Mar 2021	Severe early-onset obesity v2.22	MYT1L	Ivone Leong Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, 616521; intellectual disability to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
16 Mar 2021	Severe early-onset obesity v2.21	MKS1	Ivone Leong Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, 615990; Bardet-Biedl syndrome 13 to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
16 Mar 2021	Severe early-onset obesity v2.20	MKKS	Ivone Leong Phenotypes for gene: MKKS were changed from Obesity; Bardet-Biedl syndrome 6; Bardet-Biedl syndrome 6, 605231 to Obesity; Bardet-Biedl syndrome 6, OMIM:605231
16 Mar 2021	Severe early-onset obesity v2.19	MC4R	Ivone Leong Phenotypes for gene: MC4R were changed from Congenital Obesity; Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306; Obesity, autosomal dominant, 601665 to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
16 Mar 2021	Lysosomal storage disorder v1.47	MFSD8	Sarah Leigh Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951 to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
16 Mar 2021	Severe early-onset obesity v2.18	LEPR	Ivone Leong Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency, 614963; Congenital Obesity to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
16 Mar 2021	Severe early-onset obesity v2.17	LEPR	Ivone Leong Added comment: Comment on publications: 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island; 24611737 - uncertain heterozygous variant reported;24319006 - two homozygous cases reported (Pakistan); 23275530 - multiple homozygous cases reported from different ethnicities
16 Mar 2021	Severe early-onset obesity v2.17	LEPR	Ivone Leong Publications for gene: LEPR were set to 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island; 24611737 - uncertain heterozygous variant reported; 24319006 - two homozygous cases reported (Pakistan); 23275530 - multiple homozygous cases reported from different ethnicities
16 Mar 2021	Severe early-onset obesity v2.16	LEP	Ivone Leong Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962; Congenital Obesity to Obesity, morbid, due to leptin deficiency, OMIM:614962
16 Mar 2021	Severe early-onset obesity v2.15	GNAS	Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462
16 Mar 2021	Severe early-onset obesity v2.14	CEP19	Ivone Leong Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, 615703 to Morbid obesity and spermatogenic failure, OMIM:615703
16 Mar 2021	Severe early-onset obesity v2.13	BBS9	Ivone Leong Phenotypes for gene: BBS9 were changed from Obesity; Bardet-Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9 to Obesity; Bardet-Biedl syndrome 9, OMIM:615986
16 Mar 2021	Severe early-onset obesity v2.12	BBS7	Ivone Leong Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, 615984; Bardet-Biedl syndrome 7 to Obesity; Bardet-Biedl syndrome 7, OMIM:615984
16 Mar 2021	Severe early-onset obesity v2.11	BBS5	Ivone Leong Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5 to Obesity; Bardet-Biedl syndrome 5, OMIM:615983
16 Mar 2021	Severe early-onset obesity v2.10	BBS4	Ivone Leong Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, 615982; Bardet-Biedl syndrome 4 to Obesity; Bardet-Biedl syndrome 4, OMIM:615982
16 Mar 2021	Severe early-onset obesity v2.9	BBS2	Ivone Leong Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2, 615981 to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
16 Mar 2021	Severe early-onset obesity v2.8	BBS12	Ivone Leong Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 12, 615989 to obesity; Bardet-Biedl syndrome 12, OMIM:615989
16 Mar 2021	Severe early-onset obesity v2.7	BBS10	Ivone Leong Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 10, 615987 to obesity; Bardet-Biedl syndrome 10, OMIM:615987
16 Mar 2021	Severe early-onset obesity v2.6	BBS1	Ivone Leong Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1, 209900 to Obesity; Bardet-Biedl syndrome 1, OMIM:209900
16 Mar 2021	Severe early-onset obesity v2.5	ARL6	Ivone Leong Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3 to Obesity; Bardet-Biedl syndrome 3, OMIM:600151
16 Mar 2021	Lysosomal storage disorder v1.46	MCOLN1	Sarah Leigh Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV 252650 to Mucolipidosis IV OMIM:252650; mucolipidosis type IV MONDO:0009653
16 Mar 2021	Hypertrophic cardiomyopathy - teen and adult v2.18	FHOD3	Ivone Leong Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
16 Mar 2021	Lysosomal storage disorder v1.45	MANBA	Sarah Leigh Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 to Mannosidosis, beta OMIM:248510; beta-mannosidosis MONDO:0009562
16 Mar 2021	Hypertrophic cardiomyopathy - teen and adult v2.17	FHOD3	Ivone Leong Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804
16 Mar 2021	Lysosomal storage disorder v1.44	MAN2B1	Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II OMIM:248500; alpha-mannosidosis MONDO:0009561
16 Mar 2021	Lysosomal storage disorder v1.43	LIPA	Sarah Leigh Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease 278000; Wolman disease 278000 to Cholesteryl ester storage disease OMIM:278000; Wolman disease OMIM:278000; lysosomal acid lipase deficiency MONDO:0010204
16 Mar 2021	Lysosomal storage disorder v1.42	LAMP2	Sarah Leigh Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease OMIM:300257; Danon disease MONDO:0010281
16 Mar 2021	Lysosomal storage disorder v1.41	IDUA	Sarah Leigh Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 to Mucopolysaccharidosis Ih OMIM:607014; Hurler syndrome MONDO:0011758; Mucopolysaccharidosis Is OMIM:607016; Scheie syndrome MONDO:0011760; Mucopolysaccharidosis Ih/s OMIM:607015; Hurler-Scheie syndromeMONDO:0011759
16 Mar 2021	Lysosomal storage disorder v1.40	IDS	Sarah Leigh Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II OMIM:309900; mucopolysaccharidosis type 2 MONDO:0010674
16 Mar 2021	Lysosomal storage disorder v1.39	HYAL1	Sarah Leigh Phenotypes for gene: HYAL1 were changed from ?Mucopolysaccharidosis type IX 601492 to ?Mucopolysaccharidosis type IX OMIM:601492; mucopolysaccharidosis type 9 MONDO:0011093
16 Mar 2021	Lysosomal storage disorder v1.38	HGSNAT	Sarah Leigh Added comment: Comment on phenotypes: Biallelic variants are also associated with Retinitis pigmentosa 73 OMIM:616544
16 Mar 2021	Lysosomal storage disorder v1.38	HGSNAT	Sarah Leigh Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 to Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930; Sanfilippo syndrome type C MONDO:0009657
16 Mar 2021	Lysosomal storage disorder v1.37	HEXB	Sarah Leigh Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms 268800 to Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800; Sandhoff disease MONDO:0010006
16 Mar 2021	Lysosomal storage disorder v1.36	HEXA	Sarah Leigh Phenotypes for gene: HEXA were changed from Tay-Sachs disease 272800; GM2-gangliosidosis, several forms 272800 to Tay-Sachs disease OMIM:272800; GM2-gangliosidosis, several forms OMIM:272800; Tay-Sachs disease MONDO:0010100
16 Mar 2021	Lysosomal storage disorder v1.35	GUSB	Sarah Leigh Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII OMIM:253220; mucopolysaccharidosis type 7 MONDO:0009662
16 Mar 2021	Lysosomal storage disorder v1.34	GNPTG	Sarah Leigh Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma 252605 to Mucolipidosis III gamma OMIM:252605; mucolipidosis type III gamma MONDO:0009652
16 Mar 2021	Lysosomal storage disorder v1.33	GNPTAB	Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type III MONDO:0018931
16 Mar 2021	Lysosomal storage disorder v1.32	GNPTAB	Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931
16 Mar 2021	Lysosomal storage disorder v1.31	GNPTAB	Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta 252500 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650
16 Mar 2021	Lysosomal storage disorder v1.30	GNE	Sarah Leigh Phenotypes for gene: GNE were changed from Sialuria 269921 (AD); Nonaka myopathy 605820 to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
16 Mar 2021	Lysosomal storage disorder v1.29	GM2A	Sarah Leigh Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant 272750 to GM2-gangliosidosis, AB variant OMIM:272750; Tay-Sachs disease AB variant MONDO:0010099
16 Mar 2021	Lysosomal storage disorder v1.28	GLB1	Sarah Leigh Deleted their comment
16 Mar 2021	Lysosomal storage disorder v1.28	GLB1	Sarah Leigh Added comment: Comment on phenotypes: Mucopolysaccharidosis type IVB (Morquio) OMIM:253010;mucopolysaccharidosis type 4B MONDO:0009660;GM1-gangliosidosis, type III OMIM:230650;GM1 gangliosidosis type 3 MONDO:0009262;GM1-gangliosidosis, type I OMIM:230500;GM1 gangliosidosis type 1 MONDO:0009260;GM1-gangliosidosis, type II OMIM:230600;GM1 gangliosidosis type 2 MONDO:0009261
16 Mar 2021	Lysosomal storage disorder v1.28	GLB1	Sarah Leigh Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600 to Mucopolysaccharidosis type IVB (Morquio) OMIM:253010; mucopolysaccharidosis type 4B MONDO:0009660; GM1-gangliosidosis, type III OMIM:230650; GM1 gangliosidosis type 3 MONDO:0009262; GM1-gangliosidosis, type I OMIM:230500; GM1 gangliosidosis type 1 MONDO:0009260; GM1-gangliosidosis, type II OMIM:230600; GM1 gangliosidosis type 2 MONDO:0009261
16 Mar 2021	Severe early-onset obesity v2.4	ALMS1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Truncal obesity (onset in childhood);Alstrom syndrome associated with obesity;Alstrom syndrome, 203800
16 Mar 2021	Severe early-onset obesity v2.4	ALMS1	Ivone Leong Phenotypes for gene: ALMS1 were changed from Truncal obesity (onset in childhood); Alstrom syndrome associated with obesity; Alstrom syndrome, 203800 to Alstrom syndrome, OMIM:203800
16 Mar 2021	Lysosomal storage disorder v1.27	GLA	Sarah Leigh Phenotypes for gene: GLA were changed from Fabry disease 301500 to Fabry disease OMIM:301500; Fabry disease MONDO:0010526
16 Mar 2021	Lysosomal storage disorder v1.26	GBA	Sarah Leigh Phenotypes for gene: GBA were changed from Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900 to Gaucher disease, type I OMIM:230800; Gaucher disease type I MONDO:0009265; Gaucher disease, type III OMIM:231000; Gaucher disease type III MONDO:0009267; Gaucher disease, type IIIC OMIM:231005; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268; Gaucher disease, perinatal lethal OMIM:608013; Gaucher disease perinatal lethal MONDO:0011945; Gaucher disease, type II OMIM:230900; Gaucher disease type II MONDO:0009266
16 Mar 2021	Monogenic diabetes v2.41	ZMPSTE24	Ivone Leong Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, 608612 to Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612
16 Mar 2021	Monogenic diabetes v2.40	ZFP57	Ivone Leong Phenotypes for gene: ZFP57 were changed from Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes to transient neonatal diabetes mellitus (disease), MONDO:0020525; Diabetes mellitus, transient neonatal, 1, OMIM:601410
16 Mar 2021	Monogenic diabetes v2.39	ZBTB20	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Primrose syndrome, 259050;Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
16 Mar 2021	Monogenic diabetes v2.39	ZBTB20	Ivone Leong Phenotypes for gene: ZBTB20 were changed from Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) to diabetes mellitus (disease), MONDO:0005015
16 Mar 2021	Monogenic diabetes v2.38	WFS1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: diabetes insipidus or optic atrophy;Wolfram-like syndrome, autosomal dominant, 614296;Deafness, autosomal dominant 6/14/38, 600965;{Diabetes mellitus, noninsulin-dependent,association with};Deafness,autosomal dominant 6/14/38, 600965;Wolfram syndrome, 222300;{Diabetes mellitus, noninsulin-dependent, association with}, 125853;?Cataract 41,116400
16 Mar 2021	Monogenic diabetes v2.38	WFS1	Ivone Leong Phenotypes for gene: WFS1 were changed from diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 to Wolfram-like syndrome, autosomal dominant, OMIM:614296; Wolfram syndrome 1, OMIM:222300; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853
16 Mar 2021	Monogenic diabetes v2.37	TRMT10A	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies;young onset diabetes, short stature and microcephaly with intellectual disability;Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability;Microcephaly, short stature, and impaired glucose metabolism 1, 616033
16 Mar 2021	Monogenic diabetes v2.37	TRMT10A	Ivone Leong Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033
16 Mar 2021	Monogenic diabetes v2.36	SLC29A3	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome;H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes);Histiocytosis-lymphadenopathy plus syndrome,602782
16 Mar 2021	Monogenic diabetes v2.36	SLC29A3	Ivone Leong Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
16 Mar 2021	Monogenic diabetes v2.35	RFX6	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710;recessive syndromic diabetes and autosomal dominant MODY
16 Mar 2021	Monogenic diabetes v2.35	RFX6	Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY to Mitchell-Riley syndrome, OMIM:615710
16 Mar 2021	Monogenic diabetes v2.34	PPP1R15B	Ivone Leong Phenotypes for gene: PPP1R15B were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817
16 Mar 2021	Monogenic diabetes v2.33	PPARG	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Lipodystrophy, familial partial, type 3, 604367;FPLD3;{Diabetes, type 2}, 125853;[Obesity, resistance to];Obesity, severe, 601665;Lipodystrophy, familial partial, type 3;Insulin resistance, severe, digenic;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Insulin resistance, severe, digenic 604367;Insulin resistance, severe, digenic, 604367;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3;Lipodystrophy, familial partial, type 3 604367;Carotid intimal medial thickness 1, 609338
16 Mar 2021	Monogenic diabetes v2.33	PPARG	Ivone Leong Phenotypes for gene: PPARG were changed from Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; [Obesity, resistance to]; Obesity, severe, 601665; Lipodystrophy, familial partial, type 3; Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Lipodystrophy, familial partial, type 3 604367; Carotid intimal medial thickness 1, 609338 to Lipodystrophy, familial partial, type 3, OMIM:604367; Insulin resistance, severe, digenic, OMIM:604367; Obesity, severe, OMIM:601665; {Diabetes, type 2}, OMIM:125853
16 Mar 2021	Monogenic diabetes v2.32	PLIN1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes;Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes
16 Mar 2021	Monogenic diabetes v2.32	PLIN1	Ivone Leong Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, OMIM:613877
16 Mar 2021	Monogenic diabetes v2.31	PIK3R1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndrome
16 Mar 2021	Monogenic diabetes v2.31	PIK3R1	Ivone Leong Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880
16 Mar 2021	Lysosomal storage disorder v1.25	GALNS	Sarah Leigh Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA OMIM:253000; mucopolysaccharidosis type 4A MONDO:0009659
16 Mar 2021	Lysosomal storage disorder v1.24	GALC	Sarah Leigh Phenotypes for gene: GALC were changed from Krabbe disease 245200 to Krabbe disease OMIM:245200; Krabbe disease MONDO:0009499
16 Mar 2021	Monogenic diabetes v2.30	PDX1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Pancreatic agenesis 1;MODY4;Maturity-Onset Diabetes Of The Young;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4;Permanent neonatal diabetes;Maturity-onset diabetes of the young (MODY);MODY type IV;Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392
16 Mar 2021	Monogenic diabetes v2.30	PDX1	Ivone Leong Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392
16 Mar 2021	Lysosomal storage disorder v1.23	GAA	Sarah Leigh Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II OMIM:232300; glycogen storage disease II MONDO:0009290
16 Mar 2021	Monogenic diabetes v2.29	PCBD1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
16 Mar 2021	Monogenic diabetes v2.29	PCBD1	Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070
16 Mar 2021	Monogenic diabetes v2.28	PCBD1	Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
16 Mar 2021	Lysosomal storage disorder v1.22	FUCA1	Sarah Leigh Phenotypes for gene: FUCA1 were changed from Fucosidosis 230000 to Fucosidosis OMIM:230000; fucosidosis MONDO:0009254
16 Mar 2021	Monogenic diabetes v2.27	PAX6	Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia
16 Mar 2021	Monogenic diabetes v2.27	PAX6	Ivone Leong Phenotypes for gene: PAX6 were changed from diabetes mellitus (disease), MONDO:0005015 to diabetes mellitus (disease), MONDO:0005015
16 Mar 2021	Monogenic diabetes v2.26	PAX6	Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia
16 Mar 2021	Monogenic diabetes v2.26	PAX6	Ivone Leong Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to diabetes mellitus (disease), MONDO:0005015
16 Mar 2021	Lysosomal storage disorder v1.21	DNAJC5	Sarah Leigh Phenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
16 Mar 2021	Monogenic diabetes v2.25	NEUROD1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Maturity-onset diabetes of the young 6, 606394;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6;{Diabetes mellitus, noninsulin-dependent}, 125853;Maturity-Onset Diabetes Of The Young;MODY6;Permanent neonatal diabetes and cerebellar agenesis;Maturity Onset Diabetes of the Young
16 Mar 2021	Monogenic diabetes v2.25	NEUROD1	Ivone Leong Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young 6, OMIM:606394; {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853
16 Mar 2021	Lysosomal storage disorder v1.20	CTSK	Sarah Leigh Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800; pycnodysostosis MONDO:0009940
16 Mar 2021	Lysosomal storage disorder v1.19	CTSD	Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 OMIM:610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
16 Mar 2021	Lysosomal storage disorder v1.18	CTSD	Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127
16 Mar 2021	Lysosomal storage disorder v1.17	CTSA	Sarah Leigh Phenotypes for gene: CTSA were changed from Galactosialidosis 256540 to Galactosialidosis OMIM:256540; galactosialidosis MONDO:0009737
16 Mar 2021	Lysosomal storage disorder v1.16	CTNS	Sarah Leigh Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750 to Cystinosis, atypical nephropathic OMIM:219800; Cystinosis, nephropathic OMIM:219800; Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900; Cystinosis, ocular nonnephropathic OMIM:219750; nephropathic cystinosis MONDO:0100151; juvenile nephropathic cystinosis MONDO:0009066; ocular cystinosis MONDO:0009064
16 Mar 2021	Monogenic diabetes v2.24	MT-TL1	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: MIDD;DIABETES AND DEAFNESS, MATERNALLY INHERITED;Diabetes-Deafness Syndrome, Maternally Transmitted;MELAS syndrome;Maternally inherited diabetes
16 Mar 2021	Monogenic diabetes v2.24	MT-TL1	Ivone Leong Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes to maternally-inherited diabetes and deafness, MONDO:0010785
16 Mar 2021	Monogenic diabetes v2.23	LMNA	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: FPLD2;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2;Lipodystrophy, familial partial, 2, 151660;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Severe insulin resistance, partial lipodystrophy and diabetes
16 Mar 2021	Monogenic diabetes v2.23	LMNA	Ivone Leong Phenotypes for gene: LMNA were changed from FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 2, OMIM:151660; Severe insulin resistance, partial lipodystrophy and diabetes
16 Mar 2021	Monogenic diabetes v2.22	KCNJ11	Ivone Leong Phenotypes for gene: KCNJ11 were changed from Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820; Maturity-onset diabetes of the young, type 13, OMIM:616329
16 Mar 2021	Monogenic diabetes v2.21	KCNJ11	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Transient Neonatal diabetes mellitus (Dominant);Transient Neonatal Diabetes, Dominant;Diabetes mellitus, transient neonatal, 3, 610582;Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive);Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;Maturity Onset Diabetes of the Young;{Diabetes mellitus, type 2, susceptibility to}, 125853;Hyperinsulinemic hypoglycemia, familial, 2, 601820;Transient Neonatal, 3;Maturity Onset Diabetes of the Young (Dominant);Diabetes Mellitus, Permanent Neonatal;Diabetes mellitus, trans;Diabetes Mellitus, Transient Neonatal, 3
16 Mar 2021	Monogenic diabetes v2.21	KCNJ11	Ivone Leong Phenotypes for gene: KCNJ11 were changed from Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; {Diabetes mellitus, type 2, susceptibility to}, 125853; Hyperinsulinemic hypoglycemia, familial, 2, 601820; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820
16 Mar 2021	Monogenic diabetes v2.20	INSR	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Leprechaunism, 246200;Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549;Rabson-Mendenhall syndrome, 262190;Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans;OMIM 610549;Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities;Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans;Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities;Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, 609968;DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
16 Mar 2021	Monogenic diabetes v2.20	INSR	Ivone Leong Phenotypes for gene: INSR were changed from Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS to Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549; Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Leprechaunism, OMIM:246200; Rabson-Mendenhall syndrome, OMIM:262190
16 Mar 2021	Intestinal failure v1.5	FLNA	Miranda Durkie gene: FLNA was added gene: FLNA was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596 Phenotypes for gene: FLNA were set to Congenital short bowel Penetrance for gene: FLNA were set to unknown Review for gene: FLNA was set to GREEN Added comment: Congenital short bowel not included in other panels - overlap with intestinal failure presentation PMID: 23037936 - affected males in 2 families PMID: 33464596 - 1 affected male Sources: Literature
16 Mar 2021	Lysosomal storage disorder v1.15	ARSG	Sarah Leigh edited their review of gene: ARSG: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional and animal models.; Changed rating: GREEN
16 Mar 2021	Intestinal failure v1.5	CLMP	Miranda Durkie gene: CLMP was added gene: CLMP was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750 Phenotypes for gene: CLMP were set to Congenital short bowel Penetrance for gene: CLMP were set to unknown Review for gene: CLMP was set to GREEN Added comment: Genes for CSB not available on any other GMS panel/overlap with intestinal failure presentation PMID: 33384711 - 2 brothers with compound het LOF variants PMID: 31061750 - 1 proband with homozygous LOF CLMP variants PMID: 27720179 1 proband with compound het LOF variants PMID: 27352967: 3 patients from 2 families PMID: 22155368 - initial paper Sources: Literature
16 Mar 2021	Lysosomal storage disorder v1.15	ARSG	Sarah Leigh Tag Q2_21_rating tag was added to gene: ARSG.
16 Mar 2021	Lysosomal storage disorder v1.15	ARSG	Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381; 33300174
16 Mar 2021	Lysosomal storage disorder v1.14	ARSG	Sarah Leigh Classified gene: ARSG as Amber List (moderate evidence)
16 Mar 2021	Lysosomal storage disorder v1.14	ARSG	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
16 Mar 2021	Lysosomal storage disorder v1.14	ARSG	Sarah Leigh Gene: arsg has been classified as Amber List (Moderate Evidence).
16 Mar 2021	Lysosomal storage disorder v1.13	ARSG	Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381
16 Mar 2021	Lysosomal storage disorder v1.12	ARSG	Sarah Leigh Phenotypes for gene: ARSG were changed from Usher syndrome, type IV 618144 to Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141
16 Mar 2021	Monogenic diabetes v2.19	INS	Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: MODY10;Maturity-onset diabetes of the young, type 10, 613370;Transient Neonatal Diabetes, Dominant/Recessive;Diabetes mellitus, permanent neonatal, 606176;Diabetes mellitus, insulin-dependent, 2, 125852;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10;Maturity Onset Diabetes of the Young;Permanent Neonatal diabetes mellitus;Hyperproinsulinemia, familial, with or without diabetes;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, type 1, 125852
16 Mar 2021	Monogenic diabetes v2.19	INS	Ivone Leong Phenotypes for gene: INS were changed from MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852 to Maturity-onset diabetes of the young, type 10, OMIM:613370; Diabetes mellitus, permanent neonatal 4, OMIM:618858; Diabetes mellitus, insulin-dependent, 2, OMIM:125852; Hyperproinsulinemia, OMIM:616214
16 Mar 2021	Monogenic diabetes v2.18	HNF4A	Ivone Leong Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 to {Diabetes mellitus, noninsulin-dependent}, OMIM:125853; MODY, type I , OMIM:125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026