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KMDS-1185 super panel status test v0.10 Eleanor Williams Panel name changed from super panel status test KMDS-1185 to KMDS-1185 super panel status test
KMDS-1185 super panel status test v0.9 Eleanor Williams Changed child panels to: Limb disorders; Distal myopathies
KMDS-1185 super panel status test v0.8 Eleanor Williams Panel status changed from internal to public
KMDS-1185 super panel status test v0.7 ISCA-37394-Loss Eleanor Williams Classified Region: ISCA-37394-Loss as Red List (low evidence)
KMDS-1185 super panel status test v0.7 ISCA-37394-Loss Eleanor Williams Region: isca-37394-loss has been classified as Red List (Low Evidence).
KMDS-1185 super panel status test v0.6 ISCA-37394-Loss Eleanor Williams Entity copied from Limb disorders v3.2
KMDS-1185 super panel status test v0.6 ISCA-37394-Loss Eleanor Williams Region: ISCA-37394-Loss was added
Region: ISCA-37394-Loss was added to super panel status test KMDS-1185. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430
KMDS-1185 super panel status test v0.5 AR_CAG Eleanor Williams Classified STR: AR_CAG as Red List (low evidence)
KMDS-1185 super panel status test v0.5 AR_CAG Eleanor Williams Str: ar_cag has been classified as Red List (Low Evidence).
KMDS-1185 super panel status test v0.4 ACTA1 Eleanor Williams Classified gene: ACTA1 as Red List (low evidence)
KMDS-1185 super panel status test v0.4 ACTA1 Eleanor Williams Gene: acta1 has been classified as Red List (Low Evidence).
KMDS-1185 super panel status test v0.3 ACTA1 Eleanor Williams Entity copied from Distal myopathies v2.2
KMDS-1185 super panel status test v0.3 ACTA1 Eleanor Williams gene: ACTA1 was added
gene: ACTA1 was added to super panel status test KMDS-1185. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ACTA1 were set to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Penetrance for gene: ACTA1 were set to Incomplete
KMDS-1185 super panel status test v0.2 AR_CAG Eleanor Williams Entity copied from Distal myopathies v2.2
KMDS-1185 super panel status test v0.2 AR_CAG Eleanor Williams STR: AR_CAG was added
STR: AR_CAG was added to super panel status test KMDS-1185. Sources: NHS GMS,Expert Review Green
STR tags were added to STR: AR_CAG.
Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
KMDS-1185 super panel status test v0.1 PRSS1 Eleanor Williams gene: PRSS1 was added
gene: PRSS1 was added to super panel status test KMDS-1185. Sources: Literature
Mode of inheritance for gene: PRSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KMDS-1185 super panel status test v0.0 Eleanor Williams Added Panel super panel status test KMDS-1185
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 Eleanor Williams Panel version 3.3 has been signed off on 2022-06-30
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 Eleanor Williams Panel signed off version 3.1 has been removed
Childhood onset dystonia or chorea or related movement disorder v2.7 Eleanor Williams Panel version 2.6 has been signed off on 2022-06-30
Fetal anomalies v2.5 Eleanor Williams Panel version 2.4 has been signed off on 2022-06-30
Fetal anomalies v2.4 Eleanor Williams Panel signed off version 2.1 has been removed
Childhood onset dystonia or chorea or related movement disorder v2.6 Eleanor Williams Panel signed off version 2.4 has been removed
Childhood onset dystonia or chorea or related movement disorder v2.5 Eleanor Williams Panel signed off version 2.3 has been removed
Primary immunodeficiency or monogenic inflammatory bowel disease v3.2 TNFRSF9 Eleanor Williams Tag gene-checked tag was added to gene: TNFRSF9.
Fetal anomalies v2.3 ARHGAP29 Eleanor Williams Publications for gene: ARHGAP29 were set to
Fetal anomalies v2.2 ARHGAP29 Eleanor Williams Tag gene-checked tag was added to gene: ARHGAP29.
Childhood onset dystonia or chorea or related movement disorder v2.4 HNRNPH1 Eleanor Williams Tag gene-checked tag was added to gene: HNRNPH1.
Test MOI validation panel - do not edit v1.8 Eleanor Williams Panel signed off version 1.6 has been removed
Monogenic hearing loss v3.4 GSTT1 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: GSTT1.
Monogenic hearing loss v3.4 GSTT1 Eleanor Williams commented on gene: GSTT1
Test MOI validation panel - do not edit v1.7 Eleanor Williams Panel version 1.6 has been signed off on 2022-06-29
Bardet Biedl syndrome v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-25
White matter disorders - childhood onset v10.11 Eleanor Williams Panel version 10.10 has been signed off on 2022-06-23
Sudden unexplained death or survivors of a cardiac event v17.11 Eleanor Williams Panel version 17.10 has been signed off on 2022-06-23
Rare multisystem ciliopathy Super panel v8.8 Eleanor Williams Panel version 8.7 has been signed off on 2022-06-23
Paediatric disorders v25.19 Eleanor Williams Panel version 25.18 has been signed off on 2022-06-23
Neuromuscular disorders v12.10 Eleanor Williams Panel version 12.9 has been signed off on 2022-06-23
Hypotonic infant v18.17 Eleanor Williams Panel version 18.16 has been signed off on 2022-06-23
Hereditary ataxia and cerebellar anomalies - childhood onset v9.8 Eleanor Williams Panel version 9.7 has been signed off on 2022-06-23
Cystic renal disease v5.6 Eleanor Williams Panel version 5.5 has been signed off on 2022-06-23
Cerebral malformations v8.7 Eleanor Williams Panel version 8.6 has been signed off on 2022-06-23
Cardiac arrhythmias v11.8 Eleanor Williams Panel version 11.7 has been signed off on 2022-06-23
Respiratory ciliopathies including non-CF bronchiectasis v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Pulmonary arterial hypertension v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Laterality disorders and isomerism v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Hereditary haemorrhagic telangiectasia v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Unexplained paediatric onset end-stage renal disease v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Tubulointerstitial kidney disease v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2022-06-23
Renal tubulopathies v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Renal ciliopathies v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2022-06-23
Proteinuric renal disease v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Nephrocalcinosis or nephrolithiasis v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Cystic kidney disease v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Paediatric disorders - additional genes v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Fetal anomalies v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
DDG2P v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Structural eye disease v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Stickler syndrome v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Retinal disorders v3.4 Eleanor Williams Panel version 3.3 has been signed off on 2022-06-23
Optic neuropathy v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Ophthalmological ciliopathies v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Leber hereditary optic neuropathy v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Corneal dystrophies v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Cataracts v3.4 Eleanor Williams Panel version 3.3 has been signed off on 2022-06-23
Aniridia v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Albinism or congenital nystagmus v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Pulmonary fibrosis familial v1.2 Eleanor Williams Panel version 1.1 has been signed off on 2022-06-23
Malignant hyperthermia v1.2 Eleanor Williams Panel version 1.1 has been signed off on 2022-06-23
Acute rhabdomyolysis v1.2 Eleanor Williams Panel version 1.1 has been signed off on 2022-06-23
Autoinflammatory disorders v1.2 Eleanor Williams Panel version 1.1 has been signed off on 2022-06-23
Multi locus imprinting disorders v1.2 Eleanor Williams Panel version 1.1 has been signed off on 2022-06-23
Wilms tumour with features suggestive of predisposition v1.2 Eleanor Williams Panel version 1.1 has been signed off on 2022-06-23
White matter disorders and cerebral calcification - narrow panel v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
White matter disorders - adult onset v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Skeletal muscle channelopathy v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Severe microcephaly v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Segmental overgrowth disorders v3.4 Eleanor Williams Panel version 3.3 has been signed off on 2022-06-23
Rhabdomyolysis and metabolic muscle disorders v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Paroxysmal central nervous system disorders v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Paediatric motor neuronopathies v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Neurological segmental overgrowth v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Neurological ciliopathies v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Neurodegenerative disorders - adult onset v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Malformations of cortical development v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Limb girdle muscular dystrophy v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Intellectual disability v4.5 Eleanor Williams Panel version 4.4 has been signed off on 2022-06-23
Hydrocephalus v3.6 Eleanor Williams Panel version 3.5 has been signed off on 2022-06-23
Holoprosencephaly v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Hereditary spastic paraplegia - childhood onset v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Hereditary spastic paraplegia - adult onset v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Hereditary neuropathy NOT PMP22 copy number v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Hereditary ataxia - adult onset v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Genetic epilepsy syndromes v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Distal myopathies v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Congenital myopathy v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Congenital myaesthenic syndrome v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Congenital muscular dystrophy v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Childhood onset dystonia or chorea or related movement disorder v2.4 Eleanor Williams Panel version 2.3 has been signed off on 2022-06-23
Ataxia and cerebellar anomalies - narrow panel v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Arthrogryposis v4.2 Eleanor Williams Panel version 4.1 has been signed off on 2022-06-23
Adult onset movement disorder v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Skeletal dysplasia v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Skeletal ciliopathies v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2022-06-23
Osteogenesis imperfecta v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Limb disorders v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Craniosynostosis v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Clefting v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Possible mitochondrial disorder - nuclear genes v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2022-06-23
Mitochondrial DNA maintenance disorder v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Mitochondrial disorders v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Mitochondrial disorder with complex IV deficiency v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Mitochondrial disorder with complex I deficiency v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2022-06-23
Lysosomal storage disorder v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Lipoprotein lipase deficiency v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Inborn errors of metabolism v3.3 Eleanor Williams Panel version 3.2 has been signed off on 2022-06-23
Congenital disorders of glycosylation v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Primary immunodeficiency or monogenic inflammatory bowel disease v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Monogenic hearing loss v3.4 Eleanor Williams Panel version 3.3 has been signed off on 2022-06-23
Thrombophilia v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Rare anaemia v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Cytopenia - NOT Fanconi anaemia v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Bleeding and platelet disorders v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Pancreatitis v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Intestinal failure or congenital diarrhoea v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Cholestasis v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2022-06-23
Severe early-onset obesity v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Lipodystrophy - childhood onset v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Hypophosphataemia or rickets v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Hypogonadotropic hypogonadism idiopathic v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Hyperthyroidism v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Growth failure in early childhood v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v4.3 Eleanor Williams Panel version 4.2 has been signed off on 2022-06-23
Endocrine neoplasms v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Disorders of sex development v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Diabetes - neonatal onset v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Congenital adrenal hypoplasia v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Rare genetic inflammatory skin disorders v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Pigmentary skin disorders v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Palmoplantar keratodermas v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Multiple monogenic benign skin tumours v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Mosaic skin disorders - deep sequencing v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Ichthyosis and erythrokeratoderma v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Ectodermal dysplasia v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Cutaneous photosensitivity with a likely genetic cause v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Thoracic aortic aneurysm and dissection v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Short QT syndrome v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Progressive cardiac conduction disease v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Primary lymphoedema v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Long QT syndrome v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Hypertrophic cardiomyopathy - teen and adult v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Dilated cardiomyopathy - adult and teen v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Catecholaminergic polymorphic VT v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Cardiomyopathies - including childhood onset v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2022-06-23
Cardiac arrhythmias - additional genes v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Brugada syndrome v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Arrhythmogenic cardiomyopathy v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Tumour predisposition - childhood onset v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2022-06-23
Inherited predisposition to acute myeloid leukaemia (AML) v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Inherited polyposis and early onset colorectal cancer - germline testing v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Inherited pancreatic cancer v2.2 Eleanor Williams Panel version 2.1 has been signed off on 2022-06-23
Haematological malignancies cancer susceptibility v3.5 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Familial melanoma v2.4 Eleanor Williams Panel version 2.0 has been signed off on 2022-03-22
Inherited breast cancer and ovarian cancer v1.4 Eleanor Williams Panel version 1.0 has been signed off on 2022-03-22
Inherited ovarian cancer (without breast cancer) v3.4 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Inherited ovarian cancer (without breast cancer) v3.3 Eleanor Williams Panel version 3.2 has been signed off on 2022-06-23
Inherited ovarian cancer (without breast cancer) v3.2 Eleanor Williams Panel signed off version 3.0 has been removed
Inherited breast cancer and ovarian cancer v1.3 Eleanor Williams Panel version 1.2 has been signed off on 2022-06-23
Inherited breast cancer and ovarian cancer v1.2 Eleanor Williams Panel signed off version 1.0 has been removed
Haematological malignancies cancer susceptibility v3.4 Eleanor Williams Panel version 3.3 has been signed off on 2022-06-23
Haematological malignancies cancer susceptibility v3.3 Eleanor Williams Panel signed off version 3.0 has been removed
Familial melanoma v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2022-06-23
Familial melanoma v2.2 Eleanor Williams Panel signed off version 2.0 has been removed
Childhood onset dystonia or chorea or related movement disorder v2.3 CACNB4 Eleanor Williams Tag for-review was removed from gene: CACNB4.
Childhood onset dystonia or chorea or related movement disorder v2.3 COL6A3 Eleanor Williams Tag for-review was removed from gene: COL6A3.
Childhood onset dystonia or chorea or related movement disorder v2.3 YIF1B Eleanor Williams Tag for-review was removed from gene: YIF1B.
Childhood onset dystonia or chorea or related movement disorder v2.3 HNRNPH1 Eleanor Williams Tag for-review was removed from gene: HNRNPH1.
Childhood onset dystonia or chorea or related movement disorder v2.3 EIF2AK2 Eleanor Williams Tag for-review was removed from gene: EIF2AK2.
Childhood onset dystonia or chorea or related movement disorder v2.3 NDUFA2 Eleanor Williams Tag for-review was removed from gene: NDUFA2.
Childhood onset dystonia or chorea or related movement disorder v2.3 RNU7-1 Eleanor Williams Tag for-review was removed from gene: RNU7-1.
Childhood onset dystonia or chorea or related movement disorder v2.3 VPS4A Eleanor Williams Tag for-review was removed from gene: VPS4A.
Childhood onset dystonia or chorea or related movement disorder v2.3 CACNB4 Sarah Leigh commented on gene: CACNB4: NHSGenomic Medicine Service consideration - limited evidence for biallelic mode of inheritance.
Childhood onset dystonia or chorea or related movement disorder v2.3 CACNB4 Sarah Leigh commented on gene: CACNB4: After NHSGenomic Medicine Service consideration, the mode of inheritance of this gene has not been changed
Childhood onset dystonia or chorea or related movement disorder v2.3 COL6A3 Sarah Leigh commented on gene: COL6A3
Childhood onset dystonia or chorea or related movement disorder v2.3 YIF1B Sarah Leigh commented on gene: YIF1B
Childhood onset dystonia or chorea or related movement disorder v2.3 HNRNPH1 Sarah Leigh commented on gene: HNRNPH1
Childhood onset dystonia or chorea or related movement disorder v2.3 EIF2AK2 Sarah Leigh commented on gene: EIF2AK2
Childhood onset dystonia or chorea or related movement disorder v2.3 NDUFA2 Sarah Leigh commented on gene: NDUFA2
Childhood onset dystonia or chorea or related movement disorder v2.3 RNU7-1 Sarah Leigh commented on gene: RNU7-1
Childhood onset dystonia or chorea or related movement disorder v2.3 VPS4A Sarah Leigh commented on gene: VPS4A
Childhood onset dystonia or chorea or related movement disorder v2.2 COL6A3 Eleanor Williams Source Expert Review Amber was added to COL6A3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Childhood onset dystonia or chorea or related movement disorder v2.2 YIF1B Eleanor Williams Source Expert Review Green was added to YIF1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia or chorea or related movement disorder v2.2 HNRNPH1 Eleanor Williams Source Expert Review Green was added to HNRNPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia or chorea or related movement disorder v2.2 EIF2AK2 Eleanor Williams Source Expert Review Green was added to EIF2AK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia or chorea or related movement disorder v2.2 NDUFA2 Eleanor Williams Source Expert Review Green was added to NDUFA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia or chorea or related movement disorder v2.2 RNU7-1 Eleanor Williams Source Expert Review Green was added to RNU7-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia or chorea or related movement disorder v2.2 VPS4A Eleanor Williams Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cardiomyopathies - including childhood onset v2.2 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Retinal disorders v3.3 Eleanor Williams 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; Possible X-linked retinitis pigmentosa; Sorsby retinal dystrophy; Doyne retinal dystrophy to 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; Sorsby retinal dystrophy; Doyne retinal dystrophy; R32
Test MOI validation panel - do not edit v1.6 Eleanor Williams Panel signed off version 1.4 has been removed
API_SignedOffVersion_L4 v0.4 Eleanor Williams Panel signed off version 0.1 has been removed
API_SignedOffVersion_L4 v0.3 Eleanor Williams Panel signed off version 0.0 has been removed
Intellectual disability v4.4 POLR3B Arina Puzriakova Mode of inheritance for gene: POLR3B was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary fibrosis familial v1.1 CSF2RA Arina Puzriakova Tag Pseudoautosomal region 1 tag was added to gene: CSF2RA.
Inborn errors of metabolism v3.2 TARS2 Arina Puzriakova Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v3.3 SLITRK6 Arina Puzriakova Mode of inheritance for gene: SLITRK6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v4.3 HIST1H4C Arina Puzriakova Mode of inheritance for gene: HIST1H4C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v4.2 HIST1H4C Arina Puzriakova Phenotypes for gene: HIST1H4C were changed from Growth delay, microcephaly and intellectual disability to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758
Monogenic hearing loss v3.2 CISD2 Arina Puzriakova Mode of inheritance for gene: CISD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v3.2 ARL13B Arina Puzriakova Mode of inheritance for gene: ARL13B was changed from to BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia or chorea or related movement disorder v2.1 TAZ Arina Puzriakova commented on gene: TAZ
Hereditary neuropathy NOT PMP22 copy number v2.1 TAZ Arina Puzriakova commented on gene: TAZ
Cardiomyopathies - including childhood onset v2.1 TAZ Arina Puzriakova commented on gene: TAZ
Mitochondrial disorders v3.1 TAZ Arina Puzriakova commented on gene: TAZ
Intellectual disability v4.1 TAZ Arina Puzriakova commented on gene: TAZ
Hereditary neuropathy v1.442 TAZ Arina Puzriakova commented on gene: TAZ
DDG2P v3.1 TAZ Arina Puzriakova commented on gene: TAZ
Fetal anomalies v2.1 TAZ Arina Puzriakova commented on gene: TAZ
Possible mitochondrial disorder - nuclear genes v2.2 TAZ Arina Puzriakova commented on gene: TAZ
Inborn errors of metabolism v3.1 TAZ Arina Puzriakova commented on gene: TAZ
Undiagnosed metabolic disorders v1.514 TAZ Arina Puzriakova commented on gene: TAZ
Cytopenia - NOT Fanconi anaemia v2.1 TAZ Arina Puzriakova commented on gene: TAZ
Cytopenias and congenital anaemias v1.100 TAZ Arina Puzriakova commented on gene: TAZ
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 TAZ Arina Puzriakova commented on gene: TAZ
Dilated Cardiomyopathy and conduction defects v1.77 TAZ Arina Puzriakova commented on gene: TAZ
COVID-19 research v1.116 TAZ Arina Puzriakova commented on gene: TAZ
Fetal hydrops v1.50 TAZ Arina Puzriakova commented on gene: TAZ
Hyperammonaemia v1.13 TAZ Arina Puzriakova commented on gene: TAZ
Left Ventricular Noncompaction Cardiomyopathy v1.4 TAZ Arina Puzriakova commented on gene: TAZ
Childhood onset dystonia or chorea or related movement disorder v2.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Hereditary neuropathy NOT PMP22 copy number v2.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Cardiomyopathies - including childhood onset v2.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Mitochondrial disorders v3.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Intellectual disability v4.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Hereditary neuropathy v1.442 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
DDG2P v3.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Fetal anomalies v2.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Possible mitochondrial disorder - nuclear genes v2.2 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Inborn errors of metabolism v3.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Undiagnosed metabolic disorders v1.514 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Cytopenia - NOT Fanconi anaemia v2.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Cytopenias and congenital anaemias v1.100 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Dilated Cardiomyopathy and conduction defects v1.77 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
COVID-19 research v1.116 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Fetal hydrops v1.50 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Hyperammonaemia v1.13 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Left Ventricular Noncompaction Cardiomyopathy v1.4 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Sarcoma susceptibility v1.69 T Arina Puzriakova Tag new-gene-name tag was added to gene: T.
Sarcoma susceptibility v1.69 T Arina Puzriakova commented on gene: T: Added new-gene-name tag, new approved HGNC gene symbol is TBXT
DDG2P v3.1 PIH1D3 Arina Puzriakova commented on gene: PIH1D3
Fetal anomalies v2.1 PIH1D3 Arina Puzriakova commented on gene: PIH1D3: Added new-gene-name tag, new approved HGNC gene symbol for PIH1D3 is DNAAF6
Respiratory ciliopathies including non-CF bronchiectasis v2.1 PIH1D3 Arina Puzriakova commented on gene: PIH1D3
Laterality disorders and isomerism v2.1 PIH1D3 Arina Puzriakova commented on gene: PIH1D3
Primary ciliary disorders v1.40 PIH1D3 Arina Puzriakova commented on gene: PIH1D3
DDG2P v3.1 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Fetal anomalies v2.1 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Respiratory ciliopathies including non-CF bronchiectasis v2.1 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Laterality disorders and isomerism v2.1 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Primary ciliary disorders v1.40 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Pulmonary fibrosis familial v1.1 MARS Arina Puzriakova commented on gene: MARS: Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Hereditary neuropathy NOT PMP22 copy number v2.1 MARS Arina Puzriakova commented on gene: MARS
Pulmonary fibrosis familial v1.1 MARS Arina Puzriakova Tag new-gene-name tag was added to gene: MARS.
Hereditary neuropathy NOT PMP22 copy number v2.1 MARS Arina Puzriakova Tag new-gene-name tag was added to gene: MARS.
Intellectual disability v4.1 IMPAD1 Arina Puzriakova commented on gene: IMPAD1: Added new-gene-name tag, new approved HGNC gene symbol for IMPAD1 is BPNT2
Clefting v3.1 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
DDG2P v3.1 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
Craniosynostosis v3.1 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
Fetal anomalies v2.1 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
Skeletal dysplasia v3.1 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
Intellectual disability v4.1 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
Clefting v3.1 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
DDG2P v3.1 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
Craniosynostosis v3.1 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
Fetal anomalies v2.1 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
Skeletal dysplasia v3.1 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
Fetal anomalies v2.1 FAM46A Arina Puzriakova commented on gene: FAM46A: Added new-gene-name tag, new approved HGNC gene symbol is TENT5A
Fetal anomalies v2.1 FAM46A Arina Puzriakova Tag new-gene-name tag was added to gene: FAM46A.
Skeletal ciliopathies v2.2 C8orf37 Arina Puzriakova commented on gene: C8orf37
Renal ciliopathies v2.2 C8orf37 Arina Puzriakova commented on gene: C8orf37
Ophthalmological ciliopathies v2.1 C8orf37 Arina Puzriakova commented on gene: C8orf37
Rare multisystem ciliopathy disorders v1.159 C8orf37 Arina Puzriakova commented on gene: C8orf37
Structural eye disease v2.1 C8orf37 Arina Puzriakova commented on gene: C8orf37
Retinal disorders v3.1 C8orf37 Arina Puzriakova commented on gene: C8orf37
Intellectual disability v4.1 C8orf37 Arina Puzriakova commented on gene: C8orf37
DDG2P v3.1 C8orf37 Arina Puzriakova commented on gene: C8orf37
Fetal anomalies v2.1 C8orf37 Arina Puzriakova commented on gene: C8orf37
Bardet Biedl syndrome v2.1 C8orf37 Arina Puzriakova commented on gene: C8orf37
Limb disorders v3.1 C8orf37 Arina Puzriakova commented on gene: C8orf37
Glaucoma (developmental) v1.41 C8orf37 Arina Puzriakova commented on gene: C8orf37
Skeletal ciliopathies v2.2 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Renal ciliopathies v2.2 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Ophthalmological ciliopathies v2.1 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Rare multisystem ciliopathy disorders v1.159 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Structural eye disease v2.1 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Retinal disorders v3.1 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Intellectual disability v4.1 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
DDG2P v3.1 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Fetal anomalies v2.1 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Bardet Biedl syndrome v2.1 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Limb disorders v3.1 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Glaucoma (developmental) v1.41 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Distal myopathies v2.1 ADSSL1 Arina Puzriakova commented on gene: ADSSL1
Congenital myopathy v3.1 ADSSL1 Arina Puzriakova commented on gene: ADSSL1
Distal myopathies v2.1 ADSSL1 Arina Puzriakova Tag gene-checked was removed from gene: ADSSL1.
Tag new-gene-name tag was added to gene: ADSSL1.
Distal myopathies v2.1 ADSSL1 Arina Puzriakova Tag gene-checked tag was added to gene: ADSSL1.
Congenital myopathy v3.1 ADSSL1 Arina Puzriakova Tag new-gene-name tag was added to gene: ADSSL1.
Cholestasis v2.2 ZFYVE19 Arina Puzriakova Tag gene-checked tag was added to gene: ZFYVE19.
Childhood onset dystonia or chorea or related movement disorder v2.1 YIF1B Arina Puzriakova Tag gene-checked tag was added to gene: YIF1B.
Intellectual disability v4.1 YIF1B Arina Puzriakova Tag gene-checked tag was added to gene: YIF1B.
Fetal anomalies v2.1 WBP11 Arina Puzriakova Tag gene-checked tag was added to gene: WBP11.
Paediatric disorders - additional genes v2.1 WBP11 Arina Puzriakova Tag gene-checked tag was added to gene: WBP11.
Skeletal dysplasia v3.1 WBP11 Arina Puzriakova Tag gene-checked tag was added to gene: WBP11.
Retinal disorders v3.1 USP45 Arina Puzriakova Tag gene-checked tag was added to gene: USP45.
Severe microcephaly v3.1 TUBGCP2 Arina Puzriakova Tag gene-checked tag was added to gene: TUBGCP2.
Malformations of cortical development v3.1 TUBGCP2 Arina Puzriakova Tag gene-checked tag was added to gene: TUBGCP2.
Intellectual disability v4.1 TTC5 Arina Puzriakova Tag gene-checked tag was added to gene: TTC5.
Severe microcephaly v3.1 TTC5 Arina Puzriakova Tag gene-checked tag was added to gene: TTC5.
Hydrocephalus v3.5 TRIM71 Arina Puzriakova Tag gene-checked tag was added to gene: TRIM71.
Intellectual disability v4.1 RFX7 Arina Puzriakova Tag gene-checked tag was added to gene: RFX7.
Intellectual disability v4.1 RFX4 Arina Puzriakova Tag gene-checked tag was added to gene: RFX4.
Intellectual disability v4.1 RFX3 Arina Puzriakova Tag gene-checked tag was added to gene: RFX3.
Intellectual disability v4.1 PTRHD1 Arina Puzriakova Tag gene-checked tag was added to gene: PTRHD1.
Bleeding and platelet disorders v2.1 PTGS1 Arina Puzriakova Tag gene-checked tag was added to gene: PTGS1.
Intellectual disability v4.1 PTPN4 Arina Puzriakova Tag gene-checked tag was added to gene: PTPN4.
Fetal anomalies v2.1 PRIM1 Arina Puzriakova Tag gene-checked tag was added to gene: PRIM1.
Severe microcephaly v3.1 PRIM1 Arina Puzriakova Tag gene-checked tag was added to gene: PRIM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 PRIM1 Arina Puzriakova Tag gene-checked tag was added to gene: PRIM1.
Intellectual disability v4.1 PRICKLE2 Arina Puzriakova Tag gene-checked tag was added to gene: PRICKLE2.
Intellectual disability v4.1 PGM2L1 Arina Puzriakova Tag gene-checked tag was added to gene: PGM2L1.
Genetic epilepsy syndromes v3.1 PGM2L1 Arina Puzriakova Tag gene-checked tag was added to gene: PGM2L1.
Severe early-onset obesity v3.1 PGM2L1 Arina Puzriakova Tag gene-checked tag was added to gene: PGM2L1.
Intellectual disability v4.1 PCDHGC4 Arina Puzriakova Tag gene-checked tag was added to gene: PCDHGC4.
Genetic epilepsy syndromes v3.1 PCDHGC4 Arina Puzriakova Tag gene-checked tag was added to gene: PCDHGC4.
Severe microcephaly v3.1 PCDHGC4 Arina Puzriakova Tag gene-checked tag was added to gene: PCDHGC4.
Multi locus imprinting disorders v1.1 NLRP5 Arina Puzriakova Tag gene-checked tag was added to gene: NLRP5.
Multi locus imprinting disorders v1.1 NLRP2 Arina Puzriakova Tag gene-checked tag was added to gene: NLRP2.
Familial diabetes v1.66 NKX2-2 Arina Puzriakova Tag gene-checked tag was added to gene: NKX2-2.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66 NKX2-2 Arina Puzriakova Tag gene-checked tag was added to gene: NKX2-2.
Diabetes - neonatal onset v3.1 NKX2-2 Arina Puzriakova Tag gene-checked tag was added to gene: NKX2-2.
Acute rhabdomyolysis v1.1 OBSCN Arina Puzriakova Tag gene-checked tag was added to gene: OBSCN.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 OAS1 Arina Puzriakova Tag gene-checked tag was added to gene: OAS1.
Cardiomyopathies - including childhood onset v2.1 NRAP Arina Puzriakova Tag gene-checked tag was added to gene: NRAP.
Dilated cardiomyopathy - adult and teen v2.1 NRAP Arina Puzriakova Tag gene-checked tag was added to gene: NRAP.
Intellectual disability v4.1 NR4A2 Arina Puzriakova Tag gene-checked tag was added to gene: NR4A2.
Genetic epilepsy syndromes v3.1 NR4A2 Arina Puzriakova Tag gene-checked tag was added to gene: NR4A2.
Intellectual disability v4.1 NCKAP1 Arina Puzriakova Tag gene-checked tag was added to gene: NCKAP1.
Fetal anomalies v2.1 MYT1 Arina Puzriakova Tag gene-checked tag was added to gene: MYT1.
Cardiomyopathies - including childhood onset v2.1 MYLK3 Arina Puzriakova Tag gene-checked tag was added to gene: MYLK3.
Dilated cardiomyopathy - adult and teen v2.1 MYLK3 Arina Puzriakova Tag gene-checked tag was added to gene: MYLK3.
Fetal anomalies v2.1 MYH10 Arina Puzriakova Tag gene-checked tag was added to gene: MYH10.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 ZNF341 Arina Puzriakova Tag gene-checked tag was added to gene: ZNF341.
Mitochondrial disorders v3.1 MT-TR Eleanor Williams Tag gene-checked tag was added to gene: MT-TR.
Inborn errors of metabolism v3.1 MT-TR Eleanor Williams Tag gene-checked tag was added to gene: MT-TR.
Undiagnosed metabolic disorders v1.514 MT-TR Eleanor Williams Tag gene-checked tag was added to gene: MT-TR.
Mitochondrial disorders v3.1 MT-ND5 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND5.
Undiagnosed metabolic disorders v1.514 MT-ND5 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND5.
Mitochondrial disorders v3.1 MT-ND4L Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4L.
Undiagnosed metabolic disorders v1.514 MT-ND4L Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4L.
Mitochondrial disorders v3.1 MT-ND4 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4.
Undiagnosed metabolic disorders v1.514 MT-ND4 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4.
Optic neuropathy v3.1 MT-ND4 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4.
Leber hereditary optic neuropathy v2.1 MT-ND4 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND4.
Mitochondrial disorders v3.1 MT-ND3 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND3.
Undiagnosed metabolic disorders v1.514 MT-ND3 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND3.
Mitochondrial disorders v3.1 MT-ND2 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND2.
Undiagnosed metabolic disorders v1.514 MT-ND2 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND2.
Mitochondrial disorders v3.1 MT-ND1 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND1.
Undiagnosed metabolic disorders v1.514 MT-ND1 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND1.
Optic neuropathy v3.1 MT-ND1 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND1.
Structural basal ganglia disorders v1.30 MT-ND1 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND1.
Leber hereditary optic neuropathy v2.1 MT-ND1 Eleanor Williams Tag gene-checked tag was added to gene: MT-ND1.
Mitochondrial disorders v3.1 MT-TS1 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS1.
Monogenic hearing loss v3.1 MT-TS1 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS1.
Inborn errors of metabolism v3.1 MT-TS1 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS1.
Mitochondrial disorders v3.1 MT-TS2 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS2.
Inborn errors of metabolism v3.1 MT-TS2 Eleanor Williams Tag gene-checked tag was added to gene: MT-TS2.
Inborn errors of metabolism v3.1 MT-TV Eleanor Williams Tag gene-checked tag was added to gene: MT-TV.
Mitochondrial disorders v3.1 MT-TV Eleanor Williams Tag gene-checked tag was added to gene: MT-TV.
Rare anaemia v2.1 RPL9 Eleanor Williams Tag gene-checked tag was added to gene: RPL9.
Haematological malignancies for rare disease v1.8 RPS15 Eleanor Williams Tag gene-checked tag was added to gene: RPS15.
Haematological malignancies for rare disease v1.8 RPS15 Eleanor Williams commented on gene: RPS15
Haematological malignancies cancer susceptibility v3.2 RPS15 Eleanor Williams changed review comment from: Gene listed in table 2 in PMID:28297620; to: Gene listed in Table 2 (Genes Involved in Predisposition to Hematologic Malignancies) in PMID:28297620
Haematological malignancies cancer susceptibility v3.2 RPS15 Eleanor Williams Tag gene-checked tag was added to gene: RPS15.
Haematological malignancies cancer susceptibility v3.2 RPS15 Eleanor Williams commented on gene: RPS15
Haematological malignancies for rare disease v1.8 RPS27A Eleanor Williams Tag gene-checked tag was added to gene: RPS27A.
Haematological malignancies cancer susceptibility v3.2 RPS27A Eleanor Williams Tag gene-checked tag was added to gene: RPS27A.
Congenital myopathy v3.1 RYR3 Eleanor Williams Tag gene-checked tag was added to gene: RYR3.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 SASH3 Eleanor Williams Tag gene-checked tag was added to gene: SASH3.
Genetic epilepsy syndromes v3.1 SCAF4 Eleanor Williams Tag gene-checked tag was added to gene: SCAF4.
White matter disorders and cerebral calcification - narrow panel v2.1 SCAF4 Eleanor Williams Tag gene-checked tag was added to gene: SCAF4.
DDG2P v3.1 SIM1 Eleanor Williams Tag gene-checked tag was added to gene: SIM1.
Severe early-onset obesity v3.1 SIM1 Eleanor Williams Tag gene-checked tag was added to gene: SIM1.
Rare multisystem ciliopathy disorders v1.159 SCLT1 Eleanor Williams Tag gene-checked tag was added to gene: SCLT1.
Ophthalmological ciliopathies v2.1 SCLT1 Eleanor Williams Tag gene-checked tag was added to gene: SCLT1.
Neurological ciliopathies v2.1 SCLT1 Eleanor Williams Tag gene-checked tag was added to gene: SCLT1.
Fetal anomalies v2.1 SCLT1 Eleanor Williams Tag gene-checked tag was added to gene: SCLT1.
Rare anaemia v2.1 RPL31 Eleanor Williams Tag gene-checked tag was added to gene: RPL31.
Haematological malignancies for rare disease v1.8 RPL31 Eleanor Williams Tag gene-checked tag was added to gene: RPL31.
Haematological malignancies cancer susceptibility v3.2 RPL31 Eleanor Williams Tag gene-checked tag was added to gene: RPL31.
Haematological malignancies for rare disease v1.8 RPL23 Eleanor Williams Tag gene-checked tag was added to gene: RPL23.
Haematological malignancies cancer susceptibility v3.2 RPL23 Eleanor Williams Tag gene-checked tag was added to gene: RPL23.
Fetal anomalies v2.1 ROBO1 Eleanor Williams Tag gene-checked tag was added to gene: ROBO1.
Cardiomyopathies - including childhood onset v2.1 PPP1R13L Eleanor Williams Tag gene-checked tag was added to gene: PPP1R13L.
Proteinuric renal disease v3.1 PODXL Eleanor Williams Tag gene-checked tag was added to gene: PODXL.
Unexplained paediatric onset end-stage renal disease v2.1 PODXL Eleanor Williams Tag gene-checked tag was added to gene: PODXL.
Intellectual disability v4.1 SIN3B Eleanor Williams Tag gene-checked tag was added to gene: SIN3B.
Mitochondrial disorders v3.1 SLC25A32 Eleanor Williams Tag gene-checked tag was added to gene: SLC25A32.
Possible mitochondrial disorder - nuclear genes v2.2 SLC25A32 Eleanor Williams Tag gene-checked tag was added to gene: SLC25A32.
Inborn errors of metabolism v3.1 SLC25A32 Eleanor Williams Tag gene-checked tag was added to gene: SLC25A32.
Congenital hypothyroidism v3.2 SLC26A7 Eleanor Williams Tag gene-checked tag was added to gene: SLC26A7.
Intellectual disability v4.1 SMARCA5 Eleanor Williams Tag gene-checked tag was added to gene: SMARCA5.
Severe microcephaly v3.1 SMARCA5 Eleanor Williams Tag gene-checked tag was added to gene: SMARCA5.
Fetal anomalies v2.1 SMARCC1 Eleanor Williams Tag gene-checked tag was added to gene: SMARCC1.
Hydrocephalus v3.5 SMARCC1 Eleanor Williams Tag gene-checked tag was added to gene: SMARCC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 SNORA31 Eleanor Williams Tag gene-checked tag was added to gene: SNORA31.
Genetic epilepsy syndromes v3.1 SNX27 Eleanor Williams Tag gene-checked tag was added to gene: SNX27.
Intellectual disability v4.1 SNX27 Eleanor Williams Tag gene-checked tag was added to gene: SNX27.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 STXBP3 Eleanor Williams Tag gene-checked tag was added to gene: STXBP3.
Intellectual disability v4.1 SVBP Eleanor Williams Tag gene-checked tag was added to gene: SVBP.
Severe microcephaly v3.1 SVBP Eleanor Williams Tag gene-checked tag was added to gene: SVBP.
Genetic epilepsy syndromes v3.1 SYNCRIP Eleanor Williams Tag gene-checked tag was added to gene: SYNCRIP.
Intellectual disability v4.1 SYNCRIP Eleanor Williams Tag gene-checked tag was added to gene: SYNCRIP.
Intellectual disability v4.1 TBC1D2B Eleanor Williams Tag gene-checked tag was added to gene: TBC1D2B.
Genetic epilepsy syndromes v3.1 TBC1D2B Eleanor Williams Tag gene-checked tag was added to gene: TBC1D2B.
Ophthalmological ciliopathies v2.1 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Rare multisystem ciliopathy disorders v1.159 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Fetal anomalies v2.1 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Malformations of cortical development v3.1 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Hydrocephalus v3.5 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Proteinuric renal disease v3.1 TBC1D8B Eleanor Williams Tag gene-checked tag was added to gene: TBC1D8B.
Unexplained paediatric onset end-stage renal disease v2.1 TBC1D8B Eleanor Williams Tag gene-checked tag was added to gene: TBC1D8B.
Neurological ciliopathies v2.1 TMEM218 Eleanor Williams Tag gene-checked tag was added to gene: TMEM218.
Ophthalmological ciliopathies v2.1 TMEM218 Eleanor Williams Tag gene-checked tag was added to gene: TMEM218.
Rare multisystem ciliopathy disorders v1.159 TMEM218 Eleanor Williams Tag gene-checked tag was added to gene: TMEM218.
Retinal disorders v3.1 TMEM218 Eleanor Williams Tag gene-checked tag was added to gene: TMEM218.
Genetic epilepsy syndromes v3.1 TMEM222 Eleanor Williams Tag gene-checked tag was added to gene: TMEM222.
Intellectual disability v4.1 TMEM222 Eleanor Williams Tag gene-checked tag was added to gene: TMEM222.
Intellectual disability v4.1 TMEM94 Eleanor Williams Tag gene-checked tag was added to gene: TMEM94.
Fetal anomalies v2.1 TMEM94 Eleanor Williams Tag gene-checked tag was added to gene: TMEM94.
Proteinuric renal disease v3.1 TNS2 Eleanor Williams Tag gene-checked tag was added to gene: TNS2.
Unexplained paediatric onset end-stage renal disease v2.1 TNS2 Eleanor Williams Tag gene-checked tag was added to gene: TNS2.
Bleeding and platelet disorders v2.1 TPM4 Eleanor Williams Tag gene-checked tag was added to gene: TPM4.
Childhood onset dystonia or chorea or related movement disorder v2.1 CAMK4 Eleanor Williams Tag gene-checked tag was added to gene: CAMK4.
Intellectual disability v4.1 CAMK4 Eleanor Williams Tag gene-checked tag was added to gene: CAMK4.
Genetic epilepsy syndromes v3.1 CACNA1I Eleanor Williams Tag gene-checked tag was added to gene: CACNA1I.
Intellectual disability v4.1 CACNA1I Eleanor Williams Tag gene-checked tag was added to gene: CACNA1I.
Ectodermal dysplasia v2.1 C3orf52 Eleanor Williams Tag gene-checked tag was added to gene: C3orf52.
Intellectual disability v4.1 ATP9A Eleanor Williams Tag gene-checked tag was added to gene: ATP9A.
Genetic epilepsy syndromes v3.1 ARFGEF1 Eleanor Williams Tag gene-checked tag was added to gene: ARFGEF1.
Intellectual disability v4.1 ARFGEF1 Eleanor Williams Tag gene-checked tag was added to gene: ARFGEF1.
Paediatric disorders - additional genes v2.1 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Fetal anomalies v2.1 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Undiagnosed metabolic disorders v1.514 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Unexplained paediatric onset end-stage renal disease v2.1 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
CAKUT v1.167 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
VACTERL-like phenotypes v1.32 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Unexplained kidney failure in young people v1.105 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Mitochondrial disorders v3.1 MT-TW Eleanor Williams Tag gene-checked tag was added to gene: MT-TW.
Inborn errors of metabolism v3.1 MT-TW Eleanor Williams Tag gene-checked tag was added to gene: MT-TW.
Undiagnosed metabolic disorders v1.514 MT-TW Eleanor Williams Tag gene-checked tag was added to gene: MT-TW.
Mitochondrial disorders v3.1 MT-TQ Eleanor Williams Tag gene-checked tag was added to gene: MT-TQ.
Undiagnosed metabolic disorders v1.514 MT-TQ Eleanor Williams Tag gene-checked tag was added to gene: MT-TQ.
Inborn errors of metabolism v3.1 MT-TQ Eleanor Williams Tag gene-checked tag was added to gene: MT-TQ.
Mitochondrial disorders v3.1 MT-CYB Eleanor Williams Tag gene-checked tag was added to gene: MT-CYB.
Inborn errors of metabolism v3.1 MT-CYB Eleanor Williams Tag gene-checked tag was added to gene: MT-CYB.
Undiagnosed metabolic disorders v1.514 MT-CYB Eleanor Williams Tag gene-checked tag was added to gene: MT-CYB.
Mitochondrial disorders v3.1 MT-CO3 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO3.
Inborn errors of metabolism v3.1 MT-CO3 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO3.
Undiagnosed metabolic disorders v1.514 MT-CO3 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO3.
Acute rhabdomyolysis v1.1 MT-CO2 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2.
Mitochondrial disorders v3.1 MT-CO2 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2.
Inborn errors of metabolism v3.1 MT-CO2 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2.
Undiagnosed metabolic disorders v1.514 MT-CO2 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO2.
Acute rhabdomyolysis v1.1 MT-CO1 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1.
Mitochondrial disorders v3.1 MT-CO1 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1.
Inborn errors of metabolism v3.1 MT-CO1 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1.
Undiagnosed metabolic disorders v1.514 MT-CO1 Eleanor Williams Tag gene-checked tag was added to gene: MT-CO1.
Haematological malignancies cancer susceptibility v3.2 RPL36 Eleanor Williams Tag gene-checked tag was added to gene: RPL36.
Haematological malignancies for rare disease v1.8 RPL36 Eleanor Williams Tag gene-checked tag was added to gene: RPL36.
Childhood onset dystonia or chorea or related movement disorder v2.1 RNU7-1 Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1.
Intellectual disability v4.1 RNU7-1 Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1.
Hereditary spastic paraplegia - childhood onset v3.1 RNU7-1 Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 RNU7-1 Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1.
White matter disorders and cerebral calcification - narrow panel v2.1 RNU7-1 Eleanor Williams Tag gene-checked tag was added to gene: RNU7-1.
Intellectual disability v4.1 PPP1R21 Eleanor Williams Tag gene-checked tag was added to gene: PPP1R21.
Intellectual disability v4.1 PITRM1 Eleanor Williams Tag gene-checked tag was added to gene: PITRM1.
Intellectual disability v4.1 NTNG2 Eleanor Williams Tag gene-checked tag was added to gene: NTNG2.
Rare anaemia v2.1 NHLRC2 Eleanor Williams Tag gene-checked tag was added to gene: NHLRC2.
Paediatric disorders - additional genes v2.1 NHLRC2 Eleanor Williams Tag gene-checked tag was added to gene: NHLRC2.
Growth failure in early childhood v2.1 NHLRC2 Eleanor Williams Tag gene-checked tag was added to gene: NHLRC2.
Mitochondrial disorders v3.1 MT-TY Eleanor Williams Tag gene-checked tag was added to gene: MT-TY.
Inborn errors of metabolism v3.1 MT-TY Eleanor Williams Tag gene-checked tag was added to gene: MT-TY.
Undiagnosed metabolic disorders v1.514 MT-TY Eleanor Williams Tag gene-checked tag was added to gene: MT-TY.
Mitochondrial disorders v3.1 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Inborn errors of metabolism v3.1 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Undiagnosed metabolic disorders v1.514 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Skeletal muscle channelopathy v2.1 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Skeletal Muscle Channelopathies v1.45 MT-ATP8 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8.
Hereditary ataxia - adult onset v3.1 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Hereditary neuropathy NOT PMP22 copy number v2.1 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Mitochondrial disorders v3.1 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Hereditary neuropathy v1.442 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Inborn errors of metabolism v3.1 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Undiagnosed metabolic disorders v1.514 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Skeletal muscle channelopathy v2.1 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Optic neuropathy v3.1 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Structural basal ganglia disorders v1.30 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Hereditary ataxia v1.299 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Ataxia and cerebellar anomalies - narrow panel v3.1 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Skeletal Muscle Channelopathies v1.45 MT-ATP6 Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP6.
Tumour predisposition - childhood onset v3.1 TRIM28 Eleanor Williams Tag gene-checked tag was added to gene: TRIM28.
Wilms tumour with features suggestive of predisposition v1.1 TRIM28 Eleanor Williams Tag gene-checked tag was added to gene: TRIM28.
Hypertrophic cardiomyopathy - teen and adult v3.1 TRIM63 Eleanor Williams Tag gene-checked tag was added to gene: TRIM63.
Mitochondrial disorders v3.1 TRIT1 Eleanor Williams Tag gene-checked tag was added to gene: TRIT1.
Intellectual disability v4.1 TRIT1 Eleanor Williams Tag gene-checked tag was added to gene: TRIT1.
Possible mitochondrial disorder - nuclear genes v2.2 TRIT1 Eleanor Williams Tag gene-checked tag was added to gene: TRIT1.
Inborn errors of metabolism v3.1 TRIT1 Eleanor Williams Tag gene-checked tag was added to gene: TRIT1.
Intellectual disability v4.1 TRPM3 Eleanor Williams Tag gene-checked tag was added to gene: TRPM3.
Genetic epilepsy syndromes v3.1 TRPM3 Eleanor Williams Tag watchlist was removed from gene: TRPM3.
Tag gene-checked tag was added to gene: TRPM3.
Renal ciliopathies v2.2 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Neurological ciliopathies v2.1 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Rare multisystem ciliopathy disorders v1.159 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Fetal anomalies v2.1 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Unexplained paediatric onset end-stage renal disease v2.1 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Limb disorders v3.1 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Mitochondrial disorders v3.1 NDUFAF8 Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8.
Possible mitochondrial disorder - nuclear genes v2.2 NDUFAF8 Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8.
Inborn errors of metabolism v3.1 NDUFAF8 Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8.
Mitochondrial disorder with complex I deficiency v2.2 NDUFAF8 Eleanor Williams Tag gene-checked tag was added to gene: NDUFAF8.
Haematological malignancies cancer susceptibility v3.2 NAF1 Eleanor Williams Publications for gene: NAF1 were set to 28297620
Haematological malignancies cancer susceptibility v3.1 NAF1 Eleanor Williams Tag new-gene-name was removed from gene: NAF1.
Tag gene-checked tag was added to gene: NAF1.
Haematological malignancies cancer susceptibility v3.1 NAF1 Eleanor Williams commented on gene: NAF1
Haematological malignancies for rare disease v1.8 NAF1 Eleanor Williams Publications for gene: NAF1 were set to 28297620
Haematological malignancies for rare disease v1.7 NAF1 Eleanor Williams Tag new-gene-name was removed from gene: NAF1.
Tag gene-checked tag was added to gene: NAF1.
Pulmonary fibrosis familial v1.1 NAF1 Eleanor Williams Tag gene-checked tag was added to gene: NAF1.
Haematological malignancies for rare disease v1.7 NAF1 Eleanor Williams commented on gene: NAF1
Intellectual disability v4.1 METTL5 Eleanor Williams Tag gene-checked tag was added to gene: METTL5.
Severe microcephaly v3.1 METTL5 Eleanor Williams Tag gene-checked tag was added to gene: METTL5.
DDG2P v3.1 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
Fetal anomalies v2.1 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
Respiratory ciliopathies including non-CF bronchiectasis v2.1 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
Laterality disorders and isomerism v2.1 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
Intellectual disability v4.1 LMBRD2 Eleanor Williams Tag gene-checked tag was added to gene: LMBRD2.
Genetic epilepsy syndromes v3.1 LMBRD2 Eleanor Williams Tag gene-checked tag was added to gene: LMBRD2.
Structural eye disease v2.1 WDR37 Eleanor Williams Tag gene-checked tag was added to gene: WDR37.
Intellectual disability v4.1 WDR37 Eleanor Williams commented on gene: WDR37
Intellectual disability v4.1 WDR37 Eleanor Williams Tag gene-checked tag was added to gene: WDR37.
Genetic epilepsy syndromes v3.1 WDR37 Eleanor Williams Tag gene-checked tag was added to gene: WDR37.
DDG2P v3.1 WDR37 Eleanor Williams Tag gene-checked tag was added to gene: WDR37.
Severe microcephaly v3.1 WDR37 Eleanor Williams Tag gene-checked tag was added to gene: WDR37.
Severe microcephaly v3.1 ZNF526 Eleanor Williams Tag gene-checked tag was added to gene: ZNF526.
Cataracts v3.3 ZNF526 Eleanor Williams Tag gene-checked tag was added to gene: ZNF526.
Intellectual disability v4.1 ZNF526 Eleanor Williams Tag gene-checked tag was added to gene: ZNF526.
White matter disorders and cerebral calcification - narrow panel v2.1 KIAA1161 Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161.
Structural basal ganglia disorders v1.30 KIAA1161 Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161.
Intracerebral calcification disorders v1.34 KIAA1161 Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161.
Neurodegenerative disorders - adult onset v3.1 KIAA1161 Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161.
Adult onset movement disorder v2.1 KIAA1161 Eleanor Williams Tag gene-checked tag was added to gene: KIAA1161.
Mitochondrial disorders v3.1 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Intellectual disability v4.1 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Genetic epilepsy syndromes v3.1 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Possible mitochondrial disorder - nuclear genes v2.2 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Hereditary spastic paraplegia - childhood onset v3.1 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Severe microcephaly v3.1 HPDL Eleanor Williams Tag gene-checked tag was added to gene: HPDL.
Fetal anomalies v2.1 GREB1L Eleanor Williams Tag gene-checked tag was added to gene: GREB1L.
CAKUT v1.167 GREB1L Eleanor Williams Tag gene-checked tag was added to gene: GREB1L.
Paediatric disorders - additional genes v2.1 GREB1L Eleanor Williams Tag gene-checked tag was added to gene: GREB1L.
Intellectual disability v4.1 FBRSL1 Eleanor Williams Tag gene-checked tag was added to gene: FBRSL1.
Severe microcephaly v3.1 FBRSL1 Eleanor Williams Tag gene-checked tag was added to gene: FBRSL1.
Intellectual disability v4.1 CCDC47 Eleanor Williams Tag gene-checked tag was added to gene: CCDC47.
DDG2P v3.1 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
Fetal anomalies v2.1 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
Respiratory ciliopathies including non-CF bronchiectasis v2.1 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
Laterality disorders and isomerism v2.1 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
Arthrogryposis v4.1 ERGIC1 Eleanor Williams Tag gene-checked tag was added to gene: ERGIC1.
Fetal anomalies v2.1 EHBP1L1 Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1.
Fetal hydrops v1.50 EHBP1L1 Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1.
Inborn errors of metabolism v3.1 EHBP1L1 Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1.
Leber hereditary optic neuropathy v2.1 DNAJC30 Eleanor Williams Tag gene-checked tag was added to gene: DNAJC30.
Intellectual disability v4.1 CXorf56 Eleanor Williams Tag gene-checked tag was added to gene: CXorf56.
Intellectual disability v4.1 CEP85L Eleanor Williams Tag gene-checked tag was added to gene: CEP85L.
Genetic epilepsy syndromes v3.1 CEP85L Eleanor Williams Tag gene-checked tag was added to gene: CEP85L.
Malformations of cortical development v3.1 CEP85L Eleanor Williams Tag gene-checked tag was added to gene: CEP85L.
Pancreatitis v3.1 CELA3B Eleanor Williams Tag gene-checked tag was added to gene: CELA3B.
Hereditary neuropathy NOT PMP22 copy number v2.1 C1orf194 Eleanor Williams commented on gene: C1orf194
Hereditary neuropathy NOT PMP22 copy number v2.1 C1orf194 Eleanor Williams Tag new-gene-name tag was added to gene: C1orf194.
Hereditary neuropathy NOT PMP22 copy number v2.1 C1orf194 Eleanor Williams Tag gene-checked tag was added to gene: C1orf194.
Inborn errors of metabolism v3.1 TRAP1 Catherine Snow Tag gene-checked tag was added to gene: TRAP1.
Inborn errors of metabolism v3.1 MT-ND5 Catherine Snow Tag gene-checked tag was added to gene: MT-ND5.
Inborn errors of metabolism v3.1 MT-ND4L Catherine Snow Tag gene-checked tag was added to gene: MT-ND4L.
Inborn errors of metabolism v3.1 MT-ND4 Catherine Snow Tag gene-checked tag was added to gene: MT-ND4.
Inborn errors of metabolism v3.1 MT-ND3 Catherine Snow Tag gene-checked tag was added to gene: MT-ND3.
Inborn errors of metabolism v3.1 MT-ND2 Catherine Snow Tag gene-checked tag was added to gene: MT-ND2.
Inborn errors of metabolism v3.1 MT-ND1 Catherine Snow Tag gene-checked tag was added to gene: MT-ND1.
Genetic epilepsy syndromes v3.1 TUBGCP2 Catherine Snow Tag gene-checked tag was added to gene: TUBGCP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 ZNFX1 Catherine Snow Tag gene-checked tag was added to gene: ZNFX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 TRIM22 Catherine Snow Tag gene-checked tag was added to gene: TRIM22.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 C17orf62 Catherine Snow Tag gene-checked tag was added to gene: C17orf62.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 ALPI Catherine Snow Tag gene-checked tag was added to gene: ALPI.
Intellectual disability v4.1 AGO1 Catherine Snow Tag gene-checked tag was added to gene: AGO1.
Mitochondrial disorders v3.1 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
DDG2P v3.1 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
Inborn errors of metabolism v3.1 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
Undiagnosed metabolic disorders v1.514 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
Mitochondrial disorders v3.1 MT-TN Arina Puzriakova Tag gene-checked tag was added to gene: MT-TN.
Inborn errors of metabolism v3.1 MT-TN Arina Puzriakova Tag gene-checked tag was added to gene: MT-TN.
Undiagnosed metabolic disorders v1.514 MT-TN Arina Puzriakova Tag gene-checked tag was added to gene: MT-TN.
Inborn errors of metabolism v3.1 MT-TM Arina Puzriakova Tag gene-checked tag was added to gene: MT-TM.
Undiagnosed metabolic disorders v1.514 MT-TM Arina Puzriakova Tag gene-checked tag was added to gene: MT-TM.
Mitochondrial disorders v3.1 MT-TM Arina Puzriakova Tag gene-checked tag was added to gene: MT-TM.
Mitochondrial disorders v3.1 MT-TL2 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL2.
Inborn errors of metabolism v3.1 MT-TL2 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL2.
Undiagnosed metabolic disorders v1.514 MT-TL2 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL2.
Hereditary neuropathy v1.442 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Mitochondrial disorders v3.1 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Inborn errors of metabolism v3.1 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Undiagnosed metabolic disorders v1.514 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Monogenic diabetes v3.2 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Familial diabetes v1.66 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Mitochondrial disorders v3.1 MT-TK Arina Puzriakova Tag gene-checked tag was added to gene: MT-TK.
Inborn errors of metabolism v3.1 MT-TK Arina Puzriakova Tag gene-checked tag was added to gene: MT-TK.
Undiagnosed metabolic disorders v1.514 MT-TK Arina Puzriakova Tag gene-checked tag was added to gene: MT-TK.
Multiple lipomas v1.1 MT-TK Arina Puzriakova Tag gene-checked tag was added to gene: MT-TK.
Mitochondrial disorders v3.1 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Inborn errors of metabolism v3.1 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Undiagnosed metabolic disorders v1.514 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Mitochondrial disorders v3.1 MT-TH Arina Puzriakova Tag gene-checked tag was added to gene: MT-TH.
Inborn errors of metabolism v3.1 MT-TH Arina Puzriakova Tag gene-checked tag was added to gene: MT-TH.
Undiagnosed metabolic disorders v1.514 MT-TH Arina Puzriakova Tag gene-checked tag was added to gene: MT-TH.
Intellectual disability v4.1 MPP5 Arina Puzriakova Tag gene-checked tag was added to gene: MPP5.
Intellectual disability v4.1 LINGO4 Arina Puzriakova Tag gene-checked tag was added to gene: LINGO4.
Intellectual disability v4.1 KLF7 Arina Puzriakova Tag gene-checked tag was added to gene: KLF7.
Intellectual disability v4.1 KIF21B Arina Puzriakova Tag gene-checked tag was added to gene: KIF21B.
Genetic epilepsy syndromes v3.1 KCND2 Arina Puzriakova Tag gene-checked tag was added to gene: KCND2.
Intellectual disability v4.1 KCND2 Arina Puzriakova Tag gene-checked tag was added to gene: KCND2.
Intellectual disability v4.1 JARID2 Arina Puzriakova Tag gene-checked tag was added to gene: JARID2.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 INO80 Arina Puzriakova Tag gene-checked tag was added to gene: INO80.
COVID-19 research v1.116 INO80 Arina Puzriakova Tag gene-checked tag was added to gene: INO80.
Paediatric disorders - additional genes v2.1 HYAL2 Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2.
Clefting v3.1 HYAL2 Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2.
Familial non syndromic congenital heart disease v1.74 HYAL2 Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2.
Intellectual disability v4.1 HNRNPH1 Arina Puzriakova Tag gene-checked tag was added to gene: HNRNPH1.
Intellectual disability v4.1 HID1 Arina Puzriakova Tag gene-checked tag was added to gene: HID1.
Genetic epilepsy syndromes v3.1 HID1 Arina Puzriakova Tag gene-checked tag was added to gene: HID1.
Pituitary hormone deficiency v2.12 HID1 Arina Puzriakova Tag gene-checked tag was added to gene: HID1.
Childhood solid tumours cancer susceptibility v1.15 GPR161 Arina Puzriakova Tag gene-checked tag was added to gene: GPR161.
Tumour predisposition - childhood onset v3.1 GPR161 Arina Puzriakova Tag gene-checked tag was added to gene: GPR161.
Ocular coloboma v1.45 FZD5 Arina Puzriakova Tag gene-checked tag was added to gene: FZD5.
Structural eye disease v2.1 FZD5 Arina Puzriakova Tag gene-checked tag was added to gene: FZD5.
Renal ciliopathies v2.2 DLG5 Sarah Leigh Added comment: Comment on phenotypes: https://www.ebi.ac.uk/gene2phenotype/search?panel=ALL&search_term=DLG5
Renal ciliopathies v2.2 DLG5 Sarah Leigh Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic)
Renal ciliopathies v2.1 DLG5 Sarah Leigh Tag gene-checked tag was added to gene: DLG5.
Cholestasis v2.2 CYP7A1 Sarah Leigh Tag gene-checked tag was added to gene: CYP7A1.
Cholestasis v2.2 CYP7A1 Sarah Leigh Publications for gene: CYP7A1 were set to 9802883
Mitochondrial disorders v3.1 MT-TG Arina Puzriakova Tag gene-checked tag was added to gene: MT-TG.
Inborn errors of metabolism v3.1 MT-TG Arina Puzriakova Tag gene-checked tag was added to gene: MT-TG.
Undiagnosed metabolic disorders v1.514 MT-TG Arina Puzriakova Tag gene-checked tag was added to gene: MT-TG.
Mitochondrial disorders v3.1 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Inborn errors of metabolism v3.1 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Undiagnosed metabolic disorders v1.514 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Unexplained paediatric onset end-stage renal disease v2.1 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Tubulointerstitial kidney disease v2.2 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Mitochondrial disorders v3.1 MT-TE Arina Puzriakova Tag gene-checked tag was added to gene: MT-TE.
Inborn errors of metabolism v3.1 MT-TE Arina Puzriakova Tag gene-checked tag was added to gene: MT-TE.
Undiagnosed metabolic disorders v1.514 MT-TE Arina Puzriakova Tag gene-checked tag was added to gene: MT-TE.
Mitochondrial disorders v3.1 MT-TD Arina Puzriakova Tag gene-checked tag was added to gene: MT-TD.
Inborn errors of metabolism v3.1 MT-TD Arina Puzriakova Tag gene-checked tag was added to gene: MT-TD.
Undiagnosed metabolic disorders v1.514 MT-TD Arina Puzriakova Tag gene-checked tag was added to gene: MT-TD.
Mitochondrial disorders v3.1 MT-TC Arina Puzriakova Tag gene-checked tag was added to gene: MT-TC.
Inborn errors of metabolism v3.1 MT-TC Arina Puzriakova Tag gene-checked tag was added to gene: MT-TC.
Undiagnosed metabolic disorders v1.514 MT-TC Arina Puzriakova Tag gene-checked tag was added to gene: MT-TC.
Mitochondrial disorders v3.1 MT-TA Arina Puzriakova Tag gene-checked tag was added to gene: MT-TA.
Inborn errors of metabolism v3.1 MT-TA Arina Puzriakova Tag gene-checked tag was added to gene: MT-TA.
Undiagnosed metabolic disorders v1.514 MT-TA Arina Puzriakova Tag gene-checked tag was added to gene: MT-TA.
Cataracts v3.3 CYP51A1 Sarah Leigh Publications for gene: CYP51A1 were set to 22935719; 25148791
Cataracts v3.2 CYP51A1 Sarah Leigh Tag gene-checked tag was added to gene: CYP51A1.
Cataracts v3.2 CYP51A1 Sarah Leigh Publications for gene: CYP51A1 were set to Aldahmesh (2012) Genet Med 14(12):955-962 - novel missense variant was reported to segregate with a cataract phenotype in a Saudi Arabian family. Gillespie et al (2014) Ophthlamol 121:2124-2137 (article not available for full text access).
Iron metabolism disorders v1.33 CYBRD1 Sarah Leigh Tag gene-checked tag was added to gene: CYBRD1.
Mitochondrial disorders v3.1 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
Monogenic hearing loss v3.1 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
Hereditary neuropathy v1.442 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
Inborn errors of metabolism v3.1 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
Undiagnosed metabolic disorders v1.514 MT-RNR1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-RNR1.
Mitochondrial disorders v3.1 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Inborn errors of metabolism v3.1 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Undiagnosed metabolic disorders v1.514 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Optic neuropathy v3.1 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Structural basal ganglia disorders v1.30 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Leber hereditary optic neuropathy v2.1 MT-ND6 Arina Puzriakova Tag gene-checked tag was added to gene: MT-ND6.
Mosaic skin disorders - deep sequencing v2.1 MAP3K3 Arina Puzriakova Tag gene-checked tag was added to gene: MAP3K3.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 MAP3K14 Arina Puzriakova Tag gene-checked tag was added to gene: MAP3K14.
COVID-19 research v1.116 MAP3K14 Arina Puzriakova Tag gene-checked tag was added to gene: MAP3K14.
Genetic epilepsy syndromes v3.1 KCTD3 Arina Puzriakova Tag gene-checked tag was added to gene: KCTD3.
Intellectual disability v4.1 KCTD3 Arina Puzriakova Tag gene-checked tag was added to gene: KCTD3.
Proteinuric renal disease v3.1 ITSN1 Arina Puzriakova Tag gene-checked tag was added to gene: ITSN1.
Unexplained paediatric onset end-stage renal disease v2.1 ITSN1 Arina Puzriakova Tag gene-checked tag was added to gene: ITSN1.
Intellectual disability v4.1 HNRNPR Arina Puzriakova Tag gene-checked tag was added to gene: HNRNPR.
Genetic epilepsy syndromes v3.1 HNRNPR Arina Puzriakova Tag gene-checked tag was added to gene: HNRNPR.
DDG2P v3.1 HNRNPR Arina Puzriakova Tag gene-checked tag was added to gene: HNRNPR.
Intellectual disability v4.1 GNAI1 Arina Puzriakova Tag gene-checked tag was added to gene: GNAI1.
DDG2P v3.1 GNAI1 Arina Puzriakova Tag gene-checked tag was added to gene: GNAI1.
Mosaic skin disorders - deep sequencing v2.1 GNA14 Arina Puzriakova Tag gene-checked tag was added to gene: GNA14.
Congenital hyperinsulinism v2.8 FOXA2 Arina Puzriakova Tag gene-checked tag was added to gene: FOXA2.
Pituitary hormone deficiency v2.12 FOXA2 Arina Puzriakova Tag gene-checked tag was added to gene: FOXA2.
Proteinuric renal disease v3.1 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Structural eye disease v2.1 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Anophthalmia or microphthalmia v1.43 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Unexplained paediatric onset end-stage renal disease v2.1 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Wilms tumour with features suggestive of predisposition v1.1 CTR9 Sarah Leigh Tag gene-checked tag was added to gene: CTR9.
Tumour predisposition - childhood onset v3.1 CTR9 Sarah Leigh Tag gene-checked tag was added to gene: CTR9.
Genetic epilepsy syndromes v3.1 CSNK1G1 Sarah Leigh Tag gene-checked tag was added to gene: CSNK1G1.
Skeletal dysplasia v3.1 CSNK1G1 Sarah Leigh Tag gene-checked tag was added to gene: CSNK1G1.
Intellectual disability v4.1 CSNK1G1 Sarah Leigh Tag gene-checked tag was added to gene: CSNK1G1.
Intellectual disability v4.1 CSDE1 Sarah Leigh Tag gene-checked tag was added to gene: CSDE1.
Intellectual disability v4.1 CHD5 Sarah Leigh Tag gene-checked tag was added to gene: CHD5.
Membranoproliferative glomerulonephritis v2.21 CFHR2 Sarah Leigh Tag gene-checked tag was added to gene: CFHR2.
Paediatric disorders - additional genes v2.1 CDX1 Sarah Leigh Tag gene-checked tag was added to gene: CDX1.
Fetal anomalies v2.1 EXOC3L2 Arina Puzriakova Tag gene-checked tag was added to gene: EXOC3L2.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 DNASE2 Arina Puzriakova Tag gene-checked tag was added to gene: DNASE2.
COVID-19 research v1.116 DNASE2 Arina Puzriakova Tag gene-checked tag was added to gene: DNASE2.
Fetal anomalies v2.1 DISP1 Arina Puzriakova Tag gene-checked tag was added to gene: DISP1.
Holoprosencephaly v3.1 DISP1 Arina Puzriakova Tag gene-checked tag was added to gene: DISP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 DCLRE1B Arina Puzriakova Tag gene-checked tag was added to gene: DCLRE1B.
COVID-19 research v1.116 DCLRE1B Arina Puzriakova Tag gene-checked tag was added to gene: DCLRE1B.
Intellectual disability v4.1 BRSK2 Sarah Leigh Tag gene-checked tag was added to gene: BRSK2.
Intellectual disability v4.1 BRD4 Sarah Leigh Tag gene-checked tag was added to gene: BRD4.
Iron metabolism disorders v1.33 BMP6 Sarah Leigh Tag gene-checked tag was added to gene: BMP6.
Pulmonary arterial hypertension v3.1 ATP13A3 Sarah Leigh Tag gene-checked tag was added to gene: ATP13A3.
Clefting v3.1 ARHGAP29 Sarah Leigh Tag gene-checked tag was added to gene: ARHGAP29.
Intellectual disability v4.1 ACTL6A Sarah Leigh Tag gene-checked tag was added to gene: ACTL6A.
Test MOI validation panel - do not edit v1.5 Eleanor Williams Panel version 1.4 has been signed off on 2022-04-30
Test MOI validation panel - do not edit v1.4 ACAN Eleanor Williams Classified gene: ACAN as Green List (high evidence)
Test MOI validation panel - do not edit v1.4 ACAN Eleanor Williams Gene: acan has been classified as Green List (High Evidence).
Test MOI validation panel - do not edit v1.3 ACAN Eleanor Williams Tag gene-checked tag was added to gene: ACAN.
Test MOI validation panel - do not edit v1.3 ACAN Eleanor Williams gene: ACAN was added
gene: ACAN was added to Test MOI validation panel - do not edit. Sources: Literature
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Test MOI validation panel - do not edit v1.2 Eleanor Williams Panel signed off version 1.0 has been removed
API_SignedOffVersion_L4 v0.2 Curator Test Panel version 0.1 has been signed off on 2022-04-28
API_SignedOffVersion_L4 v0.1 Curator Test Panel version 0.0 has been signed off on 2021-02-16
API_SignedOffVersion_L4 v0.0 Curator Test Added Panel API_SignedOffVersion_L4
Set panel types to: GMS Rare Disease
PanelViaWebServices4 v0.2 AAAS Curator Test Transcript for gene AAAS was changed from None to NM_000251.2
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
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
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
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
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
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
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
PanelViaWebServices4 v0.0 Curator Test Added Panel PanelViaWebServices4
Set panel types to: Cancer Germline 100K
PanelViaWebServices1 v0.0 Curator Test Added Panel PanelViaWebServices1
Set panel types to: Cancer Germline 100K
Test MOI validation panel - do not edit v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2022-04-26
Test MOI validation panel - do not edit v1.0 Eleanor Williams promoted panel to version 1.0
Test MOI validation panel - do not edit v0.99 Eleanor Williams Panel signed off version 0.93 has been removed
Test MOI validation panel - do not edit v0.98 BMP6 Eleanor Williams Classified gene: BMP6 as Green List (high evidence)
Test MOI validation panel - do not edit v0.98 BMP6 Eleanor Williams Gene: bmp6 has been classified as Green List (High Evidence).
Test MOI validation panel - do not edit v0.97 CAMK4 Eleanor Williams Classified gene: CAMK4 as Green List (high evidence)
Test MOI validation panel - do not edit v0.97 CAMK4 Eleanor Williams Gene: camk4 has been classified as Green List (High Evidence).
Test MOI validation panel - do not edit v0.96 CAMK4 Eleanor Williams Tag gene-checked tag was added to gene: CAMK4.
Test MOI validation panel - do not edit v0.96 CAMK4 Eleanor Williams gene: CAMK4 was added
gene: CAMK4 was added to Test MOI validation panel - do not edit. Sources: Other
Mode of inheritance for gene: CAMK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAMK4 were set to No phenotype in OMIM but has tag to say checked
Test MOI validation panel - do not edit v0.95 BMP6 Eleanor Williams gene: BMP6 was added
gene: BMP6 was added to Test MOI validation panel - do not edit. Sources: Other
Mode of inheritance for gene: BMP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMP6 were set to No phenotype in OMIM and no tag
Test MOI validation panel - do not edit v0.94 Eleanor Williams Panel status changed from internal to public
Panel version 0.93 has been signed off on 2022-04-20
Test MOI validation panel - do not edit v0.93 KIR2DL2 Eleanor Williams Phenotypes for gene: KIR2DL2 were changed from to Gene with no Ensembl ID for GRCh38 (release 90)
Test MOI validation panel - do not edit v0.92 KIR2DL2 Eleanor Williams Classified gene: KIR2DL2 as Green List (high evidence)
Test MOI validation panel - do not edit v0.92 KIR2DL2 Eleanor Williams Gene: kir2dl2 has been classified as Green List (High Evidence).
Test MOI validation panel - do not edit v0.91 KIR2DL2 Eleanor Williams Entity copied from COVID-19 research v1.116
Test MOI validation panel - do not edit v0.91 KIR2DL2 Eleanor Williams gene: KIR2DL2 was added
gene: KIR2DL2 was added to Test MOI validation panel - do not edit. Sources: Expert Review Red,Literature
currently-ngs-unreportable, ensembl_ids_known_missing tags were added to gene: KIR2DL2.
Mode of inheritance for gene: KIR2DL2 was set to Unknown
Monogenic diabetes v3.2 Eleanor Williams Panel signed off version 3.0 has been removed
Congenital hypothyroidism v3.2 Eleanor Williams Panel signed off version 3.0 has been removed
Glycogen storage disease v2.2 Eleanor Williams Panel signed off version 2.0 has been removed
TEST_OCT_2020_1 v0.14 BRCA1 Eleanor Williams Source Emory Genetics Laboratory was removed from BRCA1.
Source Radboud University Medical Center, Nijmegen was removed from BRCA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
TEST_OCT_2020_1 v0.13 ABAT Eleanor Williams Source: Expert Review Green was removed from gene: ABAT
TEST_OCT_2020_1 v0.12 BRCA2 Reviewer Test gene: BRCA2 was added
gene: BRCA2 was added to TEST_OCT_2020_1. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: BRCA2 was set to RED
Added comment: Sources: Radboud University Medical Center, Nijmegen, Emory Genetics Laboratory, UKGTN
TEST_OCT_2020_1 v0.12 Eleanor Williams Panel status changed from internal to public
TEST_OCT_2020_1 v0.11 BRCA1 Eleanor Williams gene: BRCA1 was added
gene: BRCA1 was added to TEST_OCT_2020_1. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: BRCA1 was set to AMBER
Added comment: Sources: Radboud University Medical Center, Nijmegen, UKGTN, Emory Genetics Laboratory
TEST_OCT_2020_1 v0.10 PRSS1 Eleanor Williams Classified gene: PRSS1 as No list
TEST_OCT_2020_1 v0.10 PRSS1 Eleanor Williams Gene: prss1 has been removed from the panel.
TEST_OCT_2020_1 v0.9 PRSS1 Eleanor Williams Classified gene: PRSS1 as Green List (high evidence)
TEST_OCT_2020_1 v0.9 PRSS1 Eleanor Williams Gene: prss1 has been classified as Green List (High Evidence).
TEST_OCT_2020_1 v0.8 PRSS1 Eleanor Williams gene: PRSS1 was added
gene: PRSS1 was added to TEST_OCT_2020_1. Sources: Literature
Mode of inheritance for gene: PRSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Review for gene: PRSS1 was set to GREEN
Added comment: Adding test gene with green rating, and Literature source
Sources: Literature
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v4.2 Eleanor Williams Panel signed off version 3.0 has been removed
Segmental overgrowth disorders v3.3 Eleanor Williams Panel version 3.2 has been signed off on 2022-03-23
Segmental overgrowth disorders v3.2 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Panel signed off version 3.0 has been removed
Hydrocephalus v3.4 Eleanor Williams Panel version 3.3 has been signed off on 2022-03-23
Hydrocephalus v3.3 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Hydrocephalus v3.2 Eleanor Williams Panel signed off version 3.0 has been removed
White matter disorders - childhood onset v10.2 Sarah Leigh Panel version 10.1 has been signed off on 2022-03-22
Paediatric disorders v25.2 Eleanor Williams Panel version 25.1 has been signed off on 2022-03-22
Hypotonic infant v18.2 Eleanor Williams Panel version 18.1 has been signed off on 2022-03-22
Neuromuscular disorders v12.2 Sarah Leigh Panel version 12.1 has been signed off on 2022-03-22
Hereditary ataxia and cerebellar anomalies - childhood onset v9.3 Catherine Snow Panel version 9.2 has been signed off on 2022-03-22
Rare multisystem ciliopathy Super panel v8.2 Arina Puzriakova Panel version 8.1 has been signed off on 2022-03-22
Cerebral malformations v8.2 Catherine Snow Panel version 8.1 has been signed off on 2022-03-22
Sudden unexplained death or survivors of a cardiac event v17.2 Ivone Leong Panel version 17.1 has been signed off on 2022-03-22
Cystic renal disease v5.2 Eleanor Williams Panel version 5.1 has been signed off on 2022-03-22
Cardiac arrhythmias v11.2 Ivone Leong Panel version 11.1 has been signed off on 2022-03-22
Segmental overgrowth disorders v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Multi locus imprinting disorders v1.1 Arina Puzriakova Panel types changed to GMS Rare Disease; GMS signed-off
Panel version 1.0 has been signed off on 2022-03-22
Segmental overgrowth disorders v3.0 Sarah Leigh promoted panel to version 3.0
Multi locus imprinting disorders v1.0 Arina Puzriakova promoted panel to version 1.0
Paediatric motor neuronopathies v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Neurological segmental overgrowth v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-03-22
Paediatric motor neuronopathies v2.0 Sarah Leigh promoted panel to version 2.0
Neurological segmental overgrowth v2.0 Eleanor Williams promoted panel to version 2.0
Distal myopathies v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Hydrocephalus v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Distal myopathies v2.0 Arina Puzriakova promoted panel to version 2.0
Hydrocephalus v3.0 Sarah Leigh promoted panel to version 3.0
Congenital myaesthenic syndrome v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Mitochondrial DNA maintenance disorder v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Mitochondrial DNA maintenance disorder v2.0 Sarah Leigh promoted panel to version 2.0
Congenital myaesthenic syndrome v3.0 Eleanor Williams promoted panel to version 3.0
Lysosomal storage disorder v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Lysosomal storage disorder v2.0 Sarah Leigh promoted panel to version 2.0
Lipoprotein lipase deficiency v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Congenital muscular dystrophy v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Lipoprotein lipase deficiency v2.0 Sarah Leigh promoted panel to version 2.0
Congenital muscular dystrophy v3.0 Eleanor Williams promoted panel to version 3.0
Retinal disorders v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Respiratory ciliopathies including non-CF bronchiectasis v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Retinal disorders v3.0 Ivone Leong promoted panel to version 3.0
Optic neuropathy v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Optic neuropathy v3.0 Ivone Leong promoted panel to version 3.0
Respiratory ciliopathies including non-CF bronchiectasis v2.0 Arina Puzriakova promoted panel to version 2.0
Pulmonary arterial hypertension v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-03-22
Ophthalmological ciliopathies v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Pulmonary arterial hypertension v3.0 Arina Puzriakova promoted panel to version 3.0
Ophthalmological ciliopathies v2.0 Ivone Leong promoted panel to version 2.0
Leber hereditary optic neuropathy v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Laterality disorders and isomerism v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Laterality disorders and isomerism v2.0 Arina Puzriakova promoted panel to version 2.0
Leber hereditary optic neuropathy v2.0 Ivone Leong promoted panel to version 2.0
Corneal dystrophies v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Corneal dystrophies v2.0 Ivone Leong promoted panel to version 2.0
Cataracts v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Cataracts v3.0 Ivone Leong promoted panel to version 3.0
Bardet Biedl syndrome v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Bardet Biedl syndrome v2.0 Ivone Leong promoted panel to version 2.0
Aniridia v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Aniridia v3.0 Ivone Leong promoted panel to version 3.0
Albinism or congenital nystagmus v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Albinism or congenital nystagmus v2.0 Ivone Leong promoted panel to version 2.0
Structural eye disease v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Structural eye disease v2.0 Ivone Leong promoted panel to version 2.0
Stickler syndrome v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Stickler syndrome v3.0 Ivone Leong promoted panel to version 3.0
Rare genetic inflammatory skin disorders v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-03-22
Rare genetic inflammatory skin disorders v2.0 Catherine Snow promoted panel to version 2.0
Hereditary haemorrhagic telangiectasia v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-03-22
Pancreatitis v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Pancreatitis v3.0 Ivone Leong promoted panel to version 3.0
Intestinal failure or congenital diarrhoea v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Intestinal failure or congenital diarrhoea v2.0 Ivone Leong promoted panel to version 2.0
Cholestasis v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Hereditary haemorrhagic telangiectasia v3.0 Arina Puzriakova promoted panel to version 3.0
Cholestasis v2.0 Ivone Leong promoted panel to version 2.0
Paediatric disorders - additional genes v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Severe early-onset obesity v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Paediatric disorders - additional genes v2.0 Arina Puzriakova promoted panel to version 2.0
White matter disorders and cerebral calcification - narrow panel v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Severe early-onset obesity v3.0 Ivone Leong promoted panel to version 3.0
White matter disorders and cerebral calcification - narrow panel v2.0 Arina Puzriakova promoted panel to version 2.0
Rhabdomyolysis and metabolic muscle disorders v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
White matter disorders - adult onset v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Monogenic diabetes v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Rhabdomyolysis and metabolic muscle disorders v2.0 Sarah Leigh promoted panel to version 2.0
White matter disorders - adult onset v2.0 Arina Puzriakova promoted panel to version 2.0
Monogenic diabetes v3.0 Ivone Leong promoted panel to version 3.0
Lipodystrophy - childhood onset v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Wilms tumour with features suggestive of predisposition v1.1 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Panel version 1.0 has been signed off on 2022-03-22
Skeletal muscle channelopathy v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Paroxysmal central nervous system disorders v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Pigmentary skin disorders v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-03-22
Paroxysmal central nervous system disorders v2.0 Sarah Leigh promoted panel to version 2.0
Skeletal muscle channelopathy v2.0 Arina Puzriakova promoted panel to version 2.0
Wilms tumour with features suggestive of predisposition v1.0 Eleanor Williams promoted panel to version 1.0
Neurological ciliopathies v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Pigmentary skin disorders v2.0 Catherine Snow promoted panel to version 2.0
Neurological ciliopathies v2.0 Sarah Leigh promoted panel to version 2.0
Palmoplantar keratodermas v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-03-22
Palmoplantar keratodermas v2.0 Catherine Snow promoted panel to version 2.0
Neurodegenerative disorders - adult onset v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Lipodystrophy - childhood onset v3.0 Ivone Leong promoted panel to version 3.0
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Unexplained paediatric onset end-stage renal disease v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-03-22
Neurodegenerative disorders - adult onset v3.0 Sarah Leigh promoted panel to version 3.0
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.0 Ivone Leong promoted panel to version 2.0
Unexplained paediatric onset end-stage renal disease v2.0 Eleanor Williams promoted panel to version 2.0
Malformations of cortical development v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Malformations of cortical development v3.0 Sarah Leigh promoted panel to version 3.0
Limb girdle muscular dystrophy v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Limb girdle muscular dystrophy v3.0 Sarah Leigh promoted panel to version 3.0
Tubulointerstitial kidney disease v2.2 Eleanor Williams Panel version 2.0 has been signed off on 2022-03-22
Intellectual disability v4.1 Sarah Leigh Panel version 4.0 has been signed off on 2022-03-22
Hypophosphataemia or rickets v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Multiple monogenic benign skin tumours v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-03-22
Hypophosphataemia or rickets v3.0 Ivone Leong promoted panel to version 3.0
Hypogonadotropic hypogonadism idiopathic v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Tubulointerstitial kidney disease v2.0 Eleanor Williams promoted panel to version 2.0
Hypogonadotropic hypogonadism idiopathic v2.0 Ivone Leong promoted panel to version 2.0
Multiple monogenic benign skin tumours v2.0 Catherine Snow promoted panel to version 2.0
Intellectual disability v4.0 Sarah Leigh promoted panel to version 4.0
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v4.1 Ivone Leong Panel version 4.0 has been signed off on 2022-03-22
Holoprosencephaly v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Renal tubulopathies v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Holoprosencephaly v3.0 Sarah Leigh promoted panel to version 3.0
Severe microcephaly v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-03-22
Renal tubulopathies v3.0 Eleanor Williams promoted panel to version 3.0
Hereditary spastic paraplegia - childhood onset v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Hereditary spastic paraplegia - childhood onset v3.0 Sarah Leigh promoted panel to version 3.0
Hereditary spastic paraplegia - adult onset v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Mosaic skin disorders - deep sequencing v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-03-22
Renal ciliopathies v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-03-22
Hereditary spastic paraplegia - adult onset v2.0 Sarah Leigh promoted panel to version 2.0
Renal ciliopathies v2.0 Eleanor Williams promoted panel to version 2.0
Mosaic skin disorders - deep sequencing v2.0 Catherine Snow promoted panel to version 2.0
Hereditary neuropathy NOT PMP22 copy number v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Severe microcephaly v3.0 Arina Puzriakova promoted panel to version 3.0
Hereditary neuropathy NOT PMP22 copy number v2.0 Sarah Leigh promoted panel to version 2.0
Hereditary ataxia - adult onset v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Proteinuric renal disease v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Hereditary ataxia - adult onset v3.0 Sarah Leigh promoted panel to version 3.0
Proteinuric renal disease v3.0 Eleanor Williams promoted panel to version 3.0
Ichthyosis and erythrokeratoderma v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-03-22
Genetic epilepsy syndromes v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Nephrocalcinosis or nephrolithiasis v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Ichthyosis and erythrokeratoderma v2.0 Catherine Snow promoted panel to version 2.0
Genetic epilepsy syndromes v3.0 Sarah Leigh promoted panel to version 3.0
Adult onset movement disorder v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Nephrocalcinosis or nephrolithiasis v3.0 Eleanor Williams promoted panel to version 3.0
Adult onset movement disorder v2.0 Arina Puzriakova promoted panel to version 2.0
Congenital myopathy v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Congenital myopathy v3.0 Sarah Leigh promoted panel to version 3.0
Cystic kidney disease v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Fetal anomalies v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Childhood onset dystonia or chorea or related movement disorder v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Cystic kidney disease v3.0 Eleanor Williams promoted panel to version 3.0
Childhood onset dystonia or chorea or related movement disorder v2.0 Sarah Leigh promoted panel to version 2.0
Fetal anomalies v2.0 Arina Puzriakova promoted panel to version 2.0
Ataxia and cerebellar anomalies - narrow panel v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
DDG2P v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-03-22
Ectodermal dysplasia v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-03-22
Ataxia and cerebellar anomalies - narrow panel v3.0 Sarah Leigh promoted panel to version 3.0
Ectodermal dysplasia v2.0 Catherine Snow promoted panel to version 2.0
DDG2P v3.0 Arina Puzriakova promoted panel to version 3.0
Arthrogryposis v4.1 Sarah Leigh Panel version 4.0 has been signed off on 2022-03-22
Pulmonary fibrosis familial v1.1 Arina Puzriakova Panel types changed to GMS Rare Disease; GMS signed-off
Panel version 1.0 has been signed off on 2022-03-22
Arthrogryposis v4.0 Sarah Leigh promoted panel to version 4.0
Cutaneous photosensitivity with a likely genetic cause v2.1 Catherine Snow Panel version 2.0 has been signed off on 2022-03-22
Skeletal dysplasia v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Pulmonary fibrosis familial v1.0 Arina Puzriakova promoted panel to version 1.0
Skeletal dysplasia v3.0 Eleanor Williams promoted panel to version 3.0
Possible mitochondrial disorder - nuclear genes v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Malignant hyperthermia v1.1 Arina Puzriakova Panel types changed to GMS Rare Disease; GMS signed-off
Panel version 1.0 has been signed off on 2022-03-22
Malignant hyperthermia v1.0 Arina Puzriakova promoted panel to version 1.0
Possible mitochondrial disorder - nuclear genes v2.0 Sarah Leigh promoted panel to version 2.0
Mitochondrial disorders v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v4.0 Ivone Leong promoted panel to version 4.0
Hyperthyroidism v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Acute rhabdomyolysis v1.1 Arina Puzriakova Panel types changed to GMS Rare Disease; GMS signed-off
Panel version 1.0 has been signed off on 2022-03-22
Skeletal ciliopathies v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-03-22
Cutaneous photosensitivity with a likely genetic cause v2.0 Catherine Snow promoted panel to version 2.0
Hyperthyroidism v3.0 Ivone Leong promoted panel to version 3.0
Mitochondrial disorders v3.0 Sarah Leigh promoted panel to version 3.0
Acute rhabdomyolysis v1.0 Arina Puzriakova promoted panel to version 1.0
Skeletal ciliopathies v2.0 Eleanor Williams promoted panel to version 2.0
Mitochondrial disorder with complex IV deficiency v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Mitochondrial disorder with complex IV deficiency v2.0 Sarah Leigh promoted panel to version 2.0
Autoinflammatory disorders v1.1 Arina Puzriakova Panel types changed to GMS Rare Disease; GMS signed-off
Panel version 1.0 has been signed off on 2022-03-22
Autoinflammatory disorders v1.0 Arina Puzriakova promoted panel to version 1.0
Mitochondrial disorder with complex I deficiency v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Primary immunodeficiency or monogenic inflammatory bowel disease v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-03-22
Mitochondrial disorder with complex I deficiency v2.0 Sarah Leigh promoted panel to version 2.0
Growth failure in early childhood v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Growth failure in early childhood v2.0 Ivone Leong promoted panel to version 2.0
Primary immunodeficiency or monogenic inflammatory bowel disease v3.0 Arina Puzriakova promoted panel to version 3.0
Osteogenesis imperfecta v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Inborn errors of metabolism v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v3.0 Ivone Leong promoted panel to version 3.0
Endocrine neoplasms v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Osteogenesis imperfecta v3.0 Eleanor Williams promoted panel to version 3.0
Endocrine neoplasms v2.0 Ivone Leong promoted panel to version 2.0
Thrombophilia v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Disorders of sex development v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Thrombophilia v2.0 Arina Puzriakova promoted panel to version 2.0
Inborn errors of metabolism v3.0 Sarah Leigh promoted panel to version 3.0
Rare anaemia v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Rare anaemia v2.0 Arina Puzriakova promoted panel to version 2.0
Disorders of sex development v3.0 Ivone Leong promoted panel to version 3.0
Diabetes - neonatal onset v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Glycogen storage disease v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Diabetes - neonatal onset v3.0 Ivone Leong promoted panel to version 3.0
Limb disorders v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Cytopenia - NOT Fanconi anaemia v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Congenital hypothyroidism v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Cytopenia - NOT Fanconi anaemia v2.0 Arina Puzriakova promoted panel to version 2.0
Congenital hypothyroidism v3.0 Ivone Leong promoted panel to version 3.0
Glycogen storage disease v2.0 Sarah Leigh promoted panel to version 2.0
Congenital adrenal hypoplasia v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Bleeding and platelet disorders v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Congenital adrenal hypoplasia v3.0 Ivone Leong promoted panel to version 3.0
Bleeding and platelet disorders v2.0 Arina Puzriakova promoted panel to version 2.0
Limb disorders v3.0 Eleanor Williams promoted panel to version 3.0
Tumour predisposition - childhood onset v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-03-22
Tumour predisposition - childhood onset v3.0 Arina Puzriakova promoted panel to version 3.0
Inherited predisposition to acute myeloid leukaemia (AML) v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Congenital disorders of glycosylation v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2022-03-22
Cutaneous photosensitivity with a likely genetic cause v1.13 Catherine Snow Panel signed off version 1.10 has been removed
Inherited predisposition to acute myeloid leukaemia (AML) v2.0 Arina Puzriakova promoted panel to version 2.0
Craniosynostosis v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Craniosynostosis v3.0 Eleanor Williams promoted panel to version 3.0
Inherited polyposis and early onset colorectal cancer - germline testing v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Cutaneous photosensitivity with a likely genetic cause v1.11 Catherine Snow Panel version 1.10 has been signed off on 2022-03-22
Inherited polyposis and early onset colorectal cancer - germline testing v2.0 Arina Puzriakova promoted panel to version 2.0
Short QT syndrome v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Inherited pancreatic cancer v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Short QT syndrome v3.0 Ivone Leong promoted panel to version 3.0
Thoracic aortic aneurysm and dissection v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Thoracic aortic aneurysm and dissection v2.0 Ivone Leong promoted panel to version 2.0
Inherited pancreatic cancer v2.0 Arina Puzriakova promoted panel to version 2.0
Clefting v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Progressive cardiac conduction disease v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Progressive cardiac conduction disease v2.0 Ivone Leong promoted panel to version 2.0
Inherited ovarian cancer (without breast cancer) v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-03-22
Clefting v3.0 Eleanor Williams promoted panel to version 3.0
Primary lymphoedema v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Primary lymphoedema v3.0 Ivone Leong promoted panel to version 3.0
Inherited ovarian cancer (without breast cancer) v3.0 Arina Puzriakova promoted panel to version 3.0
Hypertrophic cardiomyopathy - teen and adult v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Hypertrophic cardiomyopathy - teen and adult v3.0 Ivone Leong promoted panel to version 3.0
Long QT syndrome v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Inherited breast cancer and ovarian cancer v1.1 Arina Puzriakova Panel types changed to GMS Rare Disease; GMS Cancer Germline Virtual; GMS signed-off
Panel version 1.0 has been signed off on 2022-03-22
Long QT syndrome v3.0 Ivone Leong promoted panel to version 3.0
Cardiomyopathies - including childhood onset v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Cardiomyopathies - including childhood onset v2.0 Ivone Leong promoted panel to version 2.0
Cardiac arrhythmias - additional genes v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Cardiac arrhythmias - additional genes v2.0 Ivone Leong promoted panel to version 2.0
Monogenic hearing loss v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-03-22
Inherited breast cancer and ovarian cancer v1.0 Arina Puzriakova promoted panel to version 1.0
Dilated cardiomyopathy - adult and teen v2.1 Ivone Leong Panel version 2.0 has been signed off on 2022-03-22
Dilated cardiomyopathy - adult and teen v2.0 Ivone Leong promoted panel to version 2.0
Monogenic hearing loss v3.0 Eleanor Williams promoted panel to version 3.0
Catecholaminergic polymorphic VT v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Inherited breast cancer and ovarian cancer v0.17 Arina Puzriakova Panel status changed from internal to public
Catecholaminergic polymorphic VT v3.0 Ivone Leong promoted panel to version 3.0
Congenital disorders of glycosylation v3.0 Sarah Leigh promoted panel to version 3.0
Brugada syndrome v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Brugada syndrome v3.0 Ivone Leong promoted panel to version 3.0
Arrhythmogenic cardiomyopathy v3.1 Ivone Leong Panel version 3.0 has been signed off on 2022-03-22
Haematological malignancies cancer susceptibility v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2022-03-22
Arrhythmogenic cardiomyopathy v3.0 Ivone Leong promoted panel to version 3.0
Haematological malignancies cancer susceptibility v3.0 Arina Puzriakova promoted panel to version 3.0
Pulmonary fibrosis familial v0.5 Eleanor Williams Panel status changed from internal to public
Familial melanoma v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-03-22
Malignant hyperthermia v0.5 Eleanor Williams Panel status changed from internal to public
Acute rhabdomyolysis v0.10 Eleanor Williams Panel status changed from internal to public
Autoinflammatory disorders v0.37 Eleanor Williams Panel status changed from internal to public
Multi locus imprinting disorders v0.14 Eleanor Williams Panel status changed from internal to public
Familial melanoma v2.0 Arina Puzriakova promoted panel to version 2.0
Wilms tumour with features suggestive of predisposition v0.4 Eleanor Williams Panel status changed from internal to public
Hereditary neuropathy NOT PMP22 copy number v1.89 Eleanor Williams List of related panels changed from R78; Hereditary neuropathy or pain disorder – NOT PMP22 copy number to R78; Hereditary neuropathy or pain disorder - NOT PMP22 copy number
Monogenic hearing loss v2.239 Arina Puzriakova List of related panels changed from Congenital hearing impairment; Autosomal dominant deafness; Congenital hearing impairment (profound/severe); R67 to Hearing loss; Congenital hearing impairment; Autosomal dominant deafness; Congenital hearing impairment (profound/severe); R67
Intestinal failure or congenital diarrhoea v1.50 Arina Puzriakova List of related panels changed from R331 to Intestinal failure; R331
Acute rhabdomyolysis v0.9 ACAD9 Reviewer Test commented on gene: ACAD9
Monogenic hearing loss v2.238 Arina Puzriakova Panel name changed from Hearing loss to Monogenic hearing loss
Leber hereditary optic neuropathy v1.12 Arina Puzriakova List of related panels changed from R42 to R42.1
Optic neuropathy v2.61 Arina Puzriakova List of related panels changed from Inherited optic neuropathies; R41; R42.2 to Inherited optic neuropathies; R41
Intestinal failure or congenital diarrhoea v1.49 Arina Puzriakova Panel name changed from Intestinal failure to Intestinal failure or congenital diarrhoea
Fetal anomalies v1.845 Arina Puzriakova List of related panels changed from R21; Fetal anomalies with a likely genetic cause to R21; Fetal anomalies with a likely genetic cause - rapid testing; R412; Fetal anomalies with a likely genetic cause - non urgent
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Primary immunodeficiency or monogenic inflammatory bowel disease v2.538 Arina Puzriakova Panel name changed from Primary immunodeficiency to Primary immunodeficiency or monogenic inflammatory bowel disease
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.23 Ivone Leong Panel name changed from Familial hyperparathyroidism to Familial hyperparathyroidism or hypocalciuric hypercalcaemia
List of related panels changed from R151 to R151; Familial hyperparathyroidism
Sudden unexplained death or survivors of a cardiac event v9.224 Ivone Leong List of related panels changed from Molecular autopsy; R138; R408; Sudden cardiac death to Molecular autopsy; R138; Sudden cardiac death
Inherited polyposis and early onset colorectal cancer - germline testing v1.32 Ivone Leong List of related panels changed from R211; R209; Inherited polyposis to R211; Inherited polyposis
Inherited polyposis and early onset colorectal cancer - germline testing v1.31 Ivone Leong Panel name changed from Inherited polyposis to Inherited polyposis and early onset colorectal cancer - germline testing
List of related panels changed from R211; R209 to R211; R209; Inherited polyposis
Sudden unexplained death or survivors of a cardiac event v9.223 Ivone Leong List of related panels changed from Molecular autopsy; R138; R408 to Molecular autopsy; R138; R408; Sudden cardiac death
Sudden unexplained death or survivors of a cardiac event v9.222 Ivone Leong Panel name changed from Sudden cardiac death to Sudden unexplained death or survivors of a cardiac event
Inborn errors of metabolism v2.234 QARS Sarah Leigh Mode of inheritance for gene: QARS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v2.233 QARS Sarah Leigh Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v2.233 QARS Sarah Leigh Publications for gene: QARS were set to
Mitochondrial disorders v2.95 GATC Sarah Leigh Phenotypes for gene: GATC were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 42, OMIM:618839
Mitochondrial disorders v2.94 GATC Sarah Leigh Mode of inheritance for gene: GATC was changed from to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v2.232 GATC Sarah Leigh Added comment: Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Inborn errors of metabolism v2.232 GATC Sarah Leigh Phenotypes for gene: GATC were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 42, OMIM:618839
Inborn errors of metabolism v2.231 GATC Sarah Leigh Mode of inheritance for gene: GATC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v2.83 UNC45B Sarah Leigh commented on gene: UNC45B: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Congenital myopathy v2.83 UNC45B Sarah Leigh Deleted their comment
Congenital myopathy v2.83 UNC45B Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: UNC45B.
Congenital myopathy v2.83 UNC45B Sarah Leigh Classified gene: UNC45B as Amber List (moderate evidence)
Congenital myopathy v2.83 UNC45B Sarah Leigh Gene: unc45b has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.82 KY Sarah Leigh Deleted their comment
Congenital myopathy v2.82 KY Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: KY.
Congenital myopathy v2.82 KY Sarah Leigh Classified gene: KY as Amber List (moderate evidence)
Congenital myopathy v2.82 KY Sarah Leigh Added comment: Comment on list classification: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Congenital myopathy v2.82 KY Sarah Leigh Gene: ky has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.81 KY Sarah Leigh Deleted their comment
Congenital myopathy v2.81 GFER Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: GFER.
Congenital myopathy v2.81 GFER Sarah Leigh Classified gene: GFER as Amber List (moderate evidence)
Congenital myopathy v2.81 GFER Sarah Leigh Gene: gfer has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.80 GFER Sarah Leigh reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital myopathy v2.80 GFER Sarah Leigh Deleted their review
Intellectual disability v3.1520 GLS Arina Puzriakova Tag for-review was removed from gene: GLS.
Tag watchlist tag was added to gene: GLS.
Undiagnosed metabolic disorders v1.514 GLS Arina Puzriakova Tag watchlist tag was added to gene: GLS.
Undiagnosed metabolic disorders v1.514 GLS Arina Puzriakova Tag for-review was removed from gene: GLS.
Renal ciliopathies v1.61 DLG5 Eleanor Williams commented on gene: DLG5: Changed the mode of inheritance to be inline with that recommended by the NHS reviewer. Removed the Q3_21_MOI and Q3_21_NHS_review tags.
Renal ciliopathies v1.61 DLG5 Eleanor Williams Tag Q3_21_MOI was removed from gene: DLG5.
Tag Q3_21_NHS_review was removed from gene: DLG5.
Renal ciliopathies v1.61 DLG5 Eleanor Williams Mode of inheritance for gene: DLG5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary ataxia - adult onset v2.149 ABCB7 Eleanor Williams Added comment: Comment on mode of inheritance: Changed the mode of inheritance now this gene has been demoted to amber on this panel and removed the Q3_21_MOI tag.
Hereditary ataxia - adult onset v2.149 ABCB7 Eleanor Williams Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary ataxia - adult onset v2.148 ABCB7 Eleanor Williams Tag Q3_21_MOI was removed from gene: ABCB7.
Ataxia and cerebellar anomalies - narrow panel v2.289 GLS Eleanor Williams commented on gene: GLS
Ataxia and cerebellar anomalies - narrow panel v2.289 GLS Eleanor Williams Tag for-review was removed from gene: GLS.
Tag watchlist tag was added to gene: GLS.
Multiple monogenic benign skin tumours v1.20 NOTCH3 Eleanor Williams commented on gene: NOTCH3: Removed the Q4_21_expert_review and Q4_21_NHS_review tags from this gene, and added the watchlist tag as it has only enough evidence for Amber at the moment. If more evidence is found to support the gene-disease association then the eligibility criteria for the panel needs to be expanded before promoting the gene to green.
Multiple monogenic benign skin tumours v1.20 NOTCH3 Eleanor Williams Tag Q4_21_expert_review was removed from gene: NOTCH3.
Tag Q4_21_NHS_review was removed from gene: NOTCH3.
Tag watchlist tag was added to gene: NOTCH3.
Genetic epilepsy syndromes v2.500 FAR1 Arina Puzriakova changed review comment from: Comment on mode of inheritance: As only 2/4 families with biallelic variants in this gene presented with epilepsy, in 2019, the rating was set to Amber for this allelic requirement (no new related evidence since). However, there is now evidence supporting pathogenicity of monoallelic variants affecting the Arg480 residue, and the number of unrelated individuals with seizures (8) reaches the threshold for inclusion with the monoallelic MOI.

FAR1 will be flagged for GMS expert review to determine the most appropriate MOI and rating on this panel (note that if MOI is set to 'Monoallelic' only, patients with biallelic variants would still be picked up by the Genomics England pipeline); to: Comment on mode of inheritance: As only 2/4 families with biallelic variants in this gene presented with epilepsy, in 2019, the rating was set to Amber for this allelic requirement (no new related evidence since). However, there is now evidence supporting pathogenicity of monoallelic variants affecting the Arg480 residue, and the number of unrelated individuals with seizures (8) reaches the threshold for inclusion with the monoallelic MOI.

FAR1 will be flagged for GMS expert review to determine the most appropriate MOI and rating on this panel.
Fetal anomalies v1.844 TUBA8 Arina Puzriakova Classified gene: TUBA8 as Amber List (moderate evidence)
Fetal anomalies v1.844 TUBA8 Arina Puzriakova Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.843 TUBA8 Arina Puzriakova Tag for-review was removed from gene: TUBA8.
Fetal anomalies v1.843 TUBA8 Arina Puzriakova commented on gene: TUBA8
Fetal anomalies v1.843 NEK9 Arina Puzriakova Classified gene: NEK9 as Green List (high evidence)
Fetal anomalies v1.843 NEK9 Arina Puzriakova Gene: nek9 has been classified as Green List (High Evidence).
Fetal anomalies v1.842 NEK9 Arina Puzriakova Tag for-review was removed from gene: NEK9.
Fetal anomalies v1.842 NEK9 Arina Puzriakova commented on gene: NEK9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Skeletal dysplasia v2.190 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss: The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.
Intellectual disability v3.1520 ISCA-37423-Gain Arina Puzriakova commented on Region: ISCA-37423-Gain
Familial non syndromic congenital heart disease v1.74 ISCA-37423-Gain Arina Puzriakova commented on Region: ISCA-37423-Gain
Genetic epilepsy syndromes v2.500 ISCA-37423-Gain Arina Puzriakova commented on Region: ISCA-37423-Gain
Clefting v2.66 ISCA-37423-Gain Arina Puzriakova commented on Region: ISCA-37423-Gain
Intellectual disability v3.1520 ISCA-37423-Loss Arina Puzriakova commented on Region: ISCA-37423-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37423-Loss Arina Puzriakova commented on Region: ISCA-37423-Loss
Intellectual disability v3.1520 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss
Craniosynostosis v2.67 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss: The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.
Undiagnosed metabolic disorders v1.514 ISCA-37440-Loss Eleanor Williams commented on Region: ISCA-37440-Loss
Malformations of cortical development v2.137 ISCA-37430-Loss Arina Puzriakova commented on Region: ISCA-37430-Loss
Mitochondrial disorders v2.93 ISCA-37440-Loss Eleanor Williams commented on Region: ISCA-37440-Loss
Intellectual disability v3.1520 ISCA-37430-Gain Arina Puzriakova commented on Region: ISCA-37430-Gain
Hereditary neuropathy v1.442 ISCA-37436-Gain Arina Puzriakova commented on Region: ISCA-37436-Gain
Intellectual disability v3.1520 ISCA-37434-Loss Arina Puzriakova commented on Region: ISCA-37434-Loss
Genetic epilepsy syndromes v2.500 ISCA-37434-Loss Arina Puzriakova commented on Region: ISCA-37434-Loss
Skeletal dysplasia v2.190 ISCA-37434-Loss Arina Puzriakova commented on Region: ISCA-37434-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37434-Loss Arina Puzriakova commented on Region: ISCA-37434-Loss
Intellectual disability v3.1520 ISCA-37440-Loss Eleanor Williams commented on Region: ISCA-37440-Loss
Intellectual disability v3.1520 ISCA-37430-Loss Arina Puzriakova commented on Region: ISCA-37430-Loss
Genetic epilepsy syndromes v2.500 ISCA-37430-Loss Arina Puzriakova commented on Region: ISCA-37430-Loss
Inborn errors of metabolism v2.230 ISCA-37440-Loss Eleanor Williams commented on Region: ISCA-37440-Loss
Intellectual disability v3.1520 ISCA-37429-Loss Arina Puzriakova commented on Region: ISCA-37429-Loss
Hereditary neuropathy v1.442 ISCA-37436-Loss Eleanor Williams commented on Region: ISCA-37436-Loss
Genetic epilepsy syndromes v2.500 ISCA-37429-Loss Arina Puzriakova commented on Region: ISCA-37429-Loss
Growth failure in early childhood v1.101 ISCA-37429-Loss Arina Puzriakova commented on Region: ISCA-37429-Loss
Paediatric motor neuronopathies v1.77 ISCA-37429-Loss Arina Puzriakova commented on Region: ISCA-37429-Loss
Congenital myopathy v2.80 ISCA-37429-Loss Arina Puzriakova commented on Region: ISCA-37429-Loss
IUGR and IGF abnormalities v1.51 ISCA-37429-Loss Arina Puzriakova commented on Region: ISCA-37429-Loss
Intellectual disability v3.1520 ISCA-46299-Gain Arina Puzriakova commented on Region: ISCA-46299-Gain
Intellectual disability v3.1520 ISCA-37501-Loss Arina Puzriakova commented on Region: ISCA-37501-Loss
Skeletal dysplasia v2.190 ISCA-37501-Loss Arina Puzriakova commented on Region: ISCA-37501-Loss
Severe microcephaly v2.294 ISCA-37501-Loss Arina Puzriakova commented on Region: ISCA-37501-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37501-Loss Arina Puzriakova commented on Region: ISCA-37501-Loss
Deafness and congenital structural abnormalities v1.19 ISCA-37501-Loss Arina Puzriakova commented on Region: ISCA-37501-Loss
Ataxia and cerebellar anomalies - narrow panel v2.289 ISCA-37478-Loss Eleanor Williams commented on Region: ISCA-37478-Loss
Intellectual disability v3.1520 ISCA-37494-Gain Arina Puzriakova commented on Region: ISCA-37494-Gain
Intellectual disability v3.1520 ISCA-37493-Loss Arina Puzriakova commented on Region: ISCA-37493-Loss
Neurodegenerative disorders - adult onset v2.268 ISCA-37478-Gain Eleanor Williams commented on Region: ISCA-37478-Gain
Genetic epilepsy syndromes v2.500 ISCA-37493-Loss Arina Puzriakova commented on Region: ISCA-37493-Loss
Intellectual disability v3.1520 ISCA-37494-Loss Arina Puzriakova commented on Region: ISCA-37494-Loss
Hereditary ataxia v1.299 ISCA-37478-Gain Eleanor Williams commented on Region: ISCA-37478-Gain
Intellectual disability v3.1520 ISCA-37478-Gain Eleanor Williams commented on Region: ISCA-37478-Gain
Genetic epilepsy syndromes v2.500 ISCA-37478-Gain Eleanor Williams commented on Region: ISCA-37478-Gain
Hereditary ataxia - adult onset v2.148 ISCA-37478-Gain Eleanor Williams commented on Region: ISCA-37478-Gain
Ataxia and cerebellar anomalies - narrow panel v2.289 ISCA-37478-Gain Eleanor Williams commented on Region: ISCA-37478-Gain
Adult onset movement disorder v1.167 ISCA-37468-Loss Arina Puzriakova commented on Region: ISCA-37468-Loss
Hereditary ataxia - adult onset v2.148 ISCA-37468-Loss Arina Puzriakova commented on Region: ISCA-37468-Loss
Intellectual disability v3.1520 ISCA-37468-Loss Arina Puzriakova commented on Region: ISCA-37468-Loss
Neurodegenerative disorders - adult onset v2.268 ISCA-37468-Loss Arina Puzriakova commented on Region: ISCA-37468-Loss: The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.
Paroxysmal central nervous system disorders v1.41 ISCA-37468-Loss Arina Puzriakova commented on Region: ISCA-37468-Loss
Primary immunodeficiency or monogenic inflammatory bowel disease v2.537 ISCA-37446-Loss Eleanor Williams commented on Region: ISCA-37446-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Brain channelopathy v1.78 ISCA-37468-Loss Arina Puzriakova commented on Region: ISCA-37468-Loss
Clefting v2.66 ISCA-37467-Gain Arina Puzriakova commented on Region: ISCA-37467-Gain
Familial non syndromic congenital heart disease v1.74 ISCA-37446-Loss Eleanor Williams commented on Region: ISCA-37446-Loss
COVID-19 research v1.116 ISCA-37446-Loss Eleanor Williams commented on Region: ISCA-37446-Loss
Genetic epilepsy syndromes v2.500 ISCA-37446-Loss Eleanor Williams commented on Region: ISCA-37446-Loss
Diabetes - neonatal onset v2.38 ISCA-37442-Gain Arina Puzriakova commented on Region: ISCA-37442-Gain
Intellectual disability v3.1520 ISCA-37446-Loss Eleanor Williams commented on Region: ISCA-37446-Loss
Clefting v2.66 ISCA-37446-Loss Eleanor Williams commented on Region: ISCA-37446-Loss
Intellectual disability v3.1520 ISCA-37433-Gain Arina Puzriakova commented on Region: ISCA-37433-Gain
Intellectual disability v3.1520 ISCA-37446-Gain Arina Puzriakova commented on Region: ISCA-37446-Gain
Intellectual disability v3.1520 ISCA-37443-Loss Arina Puzriakova commented on Region: ISCA-37443-Loss
Intellectual disability v3.1520 ISCA-37439-Gain Arina Puzriakova commented on Region: ISCA-37439-Gain
Intellectual disability v3.1520 ISCA-37433-Loss Arina Puzriakova commented on Region: ISCA-37433-Loss
Genetic epilepsy syndromes v2.500 ISCA-37433-Loss Arina Puzriakova commented on Region: ISCA-37433-Loss
Clefting v2.66 ISCA-37433-Loss Arina Puzriakova commented on Region: ISCA-37433-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37433-Loss Arina Puzriakova commented on Region: ISCA-37433-Loss
Primary immunodeficiency or monogenic inflammatory bowel disease v2.537 ISCA-37433-Loss Arina Puzriakova commented on Region: ISCA-37433-Loss
COVID-19 research v1.116 ISCA-37433-Loss Arina Puzriakova commented on Region: ISCA-37433-Loss
Renal ciliopathies v1.60 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Rare multisystem ciliopathy disorders v1.159 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Intellectual disability v3.1520 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Unexplained paediatric onset end-stage renal disease v1.33 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
CAKUT v1.167 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Monogenic diabetes v2.47 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Unexplained kidney failure in young people v1.105 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Cystic kidney disease v2.36 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Familial diabetes v1.66 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Neonatal cholestasis v1.24 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Intellectual disability v3.1520 ISCA-37432-Gain Arina Puzriakova commented on Region: ISCA-37432-Gain
Genetic epilepsy syndromes v2.500 ISCA-37432-Gain Arina Puzriakova commented on Region: ISCA-37432-Gain
Intellectual disability v3.1520 ISCA-37431-Gain Arina Puzriakova commented on Region: ISCA-37431-Gain
Cardiomyopathies - including childhood onset v1.68 ISCA-37431-Loss Arina Puzriakova commented on Region: ISCA-37431-Loss
RASopathies v1.78 ISCA-37431-Loss Arina Puzriakova commented on Region: ISCA-37431-Loss
Intellectual disability v3.1520 ISCA-37431-Loss Arina Puzriakova commented on Region: ISCA-37431-Loss
Pigmentary skin disorders v1.46 ISCA-37431-Loss Arina Puzriakova commented on Region: ISCA-37431-Loss
Neurofibromatosis Type 1 v1.27 ISCA-37431-Loss Arina Puzriakova commented on Region: ISCA-37431-Loss
Familial Tumours Syndromes of the central & peripheral Nervous system v1.12 ISCA-37431-Loss Arina Puzriakova commented on Region: ISCA-37431-Loss
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.116 ISCA-37425-Loss Arina Puzriakova commented on Region: ISCA-37425-Loss
Intellectual disability v3.1520 ISCA-37425-Loss Arina Puzriakova commented on Region: ISCA-37425-Loss
Intellectual disability v3.1520 ISCA-37425-Gain Arina Puzriakova commented on Region: ISCA-37425-Gain
Severe microcephaly v2.294 ISCA-37425-Gain Arina Puzriakova commented on Region: ISCA-37425-Gain
Intellectual disability v3.1520 ISCA-37424-Loss Arina Puzriakova commented on Region: ISCA-37424-Loss
Intellectual disability v3.1520 ISCA-37421-Gain Arina Puzriakova commented on Region: ISCA-37421-Gain
Intellectual disability v3.1520 ISCA-37421-Loss Arina Puzriakova commented on Region: ISCA-37421-Loss
Intellectual disability v3.1520 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss
Growth failure in early childhood v1.101 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss
Paediatric motor neuronopathies v1.77 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss
Craniosynostosis v2.67 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss
Congenital myopathy v2.80 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss
IUGR and IGF abnormalities v1.51 ISCA-37420-Loss Arina Puzriakova commented on Region: ISCA-37420-Loss
Intellectual disability v3.1520 ISCA-37418-Gain Arina Puzriakova commented on Region: ISCA-37418-Gain
Intellectual disability v3.1520 ISCA-37418-Loss Arina Puzriakova commented on Region: ISCA-37418-Loss
Skeletal dysplasia v2.190 ISCA-37418-Loss Arina Puzriakova commented on Region: ISCA-37418-Loss
Ichthyosis and erythrokeratoderma v1.72 ISCA-37417-Loss Arina Puzriakova commented on Region: ISCA-37417-Loss
Autosomal recessive congenital ichthyosis v1.14 ISCA-37417-Loss Arina Puzriakova commented on Region: ISCA-37417-Loss
Intellectual disability v3.1520 ISCA-37415-Loss Arina Puzriakova commented on Region: ISCA-37415-Loss
Genetic epilepsy syndromes v2.500 ISCA-37415-Loss Arina Puzriakova commented on Region: ISCA-37415-Loss
Intellectual disability v3.1520 ISCA-37415-Gain Arina Puzriakova commented on Region: ISCA-37415-Gain
Intellectual disability v3.1520 ISCA-37411-Loss Arina Puzriakova commented on Region: ISCA-37411-Loss
Genetic epilepsy syndromes v2.500 ISCA-37411-Loss Arina Puzriakova commented on Region: ISCA-37411-Loss
Renal ciliopathies v1.60 ISCA-37405-Loss Arina Puzriakova commented on Region: ISCA-37405-Loss
Rare multisystem ciliopathy disorders v1.159 ISCA-37405-Loss Arina Puzriakova commented on Region: ISCA-37405-Loss
Intellectual disability v3.1520 ISCA-37405-Loss Arina Puzriakova commented on Region: ISCA-37405-Loss
Unexplained paediatric onset end-stage renal disease v1.33 ISCA-37405-Loss Arina Puzriakova commented on Region: ISCA-37405-Loss
Unexplained kidney failure in young people v1.105 ISCA-37405-Loss Arina Puzriakova commented on Region: ISCA-37405-Loss
Cystic kidney disease v2.36 ISCA-37405-Loss Arina Puzriakova commented on Region: ISCA-37405-Loss
Severe early-onset obesity v2.49 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Paediatric motor neuronopathies v1.77 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Neurodegenerative disorders - adult onset v2.268 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Intellectual disability v3.1520 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Hereditary ataxia - adult onset v2.148 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Hereditary ataxia v1.299 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Genetic epilepsy syndromes v2.500 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Congenital hypothyroidism v2.10 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Ataxia and cerebellar anomalies - narrow panel v2.289 ISCA-37404-Loss Arina Puzriakova commented on Region: ISCA-37404-Loss
Intellectual disability v3.1520 ISCA-37404-Gain Arina Puzriakova commented on Region: ISCA-37404-Gain
Intellectual disability v3.1520 ISCA-37400-Loss Arina Puzriakova commented on Region: ISCA-37400-Loss
Intellectual disability v3.1520 ISCA-37400-Gain Arina Puzriakova commented on Region: ISCA-37400-Gain
Intellectual disability v3.1520 ISCA-37397-Loss Arina Puzriakova commented on Region: ISCA-37397-Loss
Growth failure in early childhood v1.101 ISCA-37397-Loss Arina Puzriakova commented on Region: ISCA-37397-Loss
Intellectual disability v3.1520 ISCA-37397-Gain Arina Puzriakova commented on Region: ISCA-37397-Gain
IUGR and IGF abnormalities v1.51 ISCA-37397-Loss Arina Puzriakova commented on Region: ISCA-37397-Loss
Intellectual disability v3.1520 ISCA-37408-Loss Ivone Leong commented on Region: ISCA-37408-Loss
Paediatric motor neuronopathies v1.77 ISCA-37408-Loss Ivone Leong commented on Region: ISCA-37408-Loss
Severe microcephaly v2.294 ISCA-37408-Loss Ivone Leong commented on Region: ISCA-37408-Loss
Congenital myopathy v2.80 ISCA-37408-Loss Ivone Leong commented on Region: ISCA-37408-Loss
Intellectual disability v3.1520 ISCA-37406-Loss Ivone Leong commented on Region: ISCA-37406-Loss
Growth failure in early childhood v1.101 ISCA-37406-Loss Ivone Leong commented on Region: ISCA-37406-Loss
Skeletal dysplasia v2.190 ISCA-37406-Loss Ivone Leong commented on Region: ISCA-37406-Loss
Severe microcephaly v2.294 ISCA-37406-Loss Ivone Leong commented on Region: ISCA-37406-Loss
IUGR and IGF abnormalities v1.51 ISCA-37406-Loss Ivone Leong commented on Region: ISCA-37406-Loss
Intellectual disability v3.1520 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Unexplained paediatric onset end-stage renal disease v1.33 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Disorders of sex development v2.59 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss: The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.
Unexplained kidney failure in young people v1.105 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Aniridia v2.15 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Tumour predisposition - childhood onset v2.27 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Adult solid tumours for rare disease v1.27 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Intellectual disability v3.1520 ISCA-37396-Loss Ivone Leong commented on Region: ISCA-37396-Loss
Ocular coloboma v1.45 ISCA-37396-Loss Ivone Leong commented on Region: ISCA-37396-Loss
Deafness and congenital structural abnormalities v1.19 ISCA-37396-Loss Ivone Leong commented on Region: ISCA-37396-Loss
Structural eye disease v1.117 ISCA-37396-Loss Ivone Leong commented on Region: ISCA-37396-Loss
Genetic epilepsy syndromes v2.500 ISCA-46295-Loss Ivone Leong commented on Region: ISCA-46295-Loss
Intellectual disability v3.1520 ISCA-46295-Loss Ivone Leong commented on Region: ISCA-46295-Loss
Intellectual disability v3.1520 ISCA-46290-Gain Ivone Leong commented on Region: ISCA-46290-Gain
Genetic epilepsy syndromes v2.500 ISCA-46290-Gain Ivone Leong commented on Region: ISCA-46290-Gain
Intellectual disability v3.1520 ISCA-37500-Loss Ivone Leong commented on Region: ISCA-37500-Loss
Intellectual disability v3.1520 ISCA-37486-Loss Ivone Leong commented on Region: ISCA-37486-Loss
Severe early-onset obesity v2.49 ISCA-37486-Loss Ivone Leong commented on Region: ISCA-37486-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Severe early-onset obesity v2.49 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Neurodegenerative disorders - adult onset v2.268 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss
Paediatric motor neuronopathies v1.77 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss
Hereditary ataxia v1.299 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss
Intellectual disability v3.1520 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss
Congenital hypothyroidism v2.10 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss: The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Hereditary ataxia - adult onset v2.148 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss
Genetic epilepsy syndromes v2.500 ISCA-37478-Loss Ivone Leong commented on Region: ISCA-37478-Loss
Limb disorders v2.75 ISCA-37394-Loss Ivone Leong commented on Region: ISCA-37394-Loss
Skeletal dysplasia v2.190 ISCA-37394-Loss Ivone Leong commented on Region: ISCA-37394-Loss
Intellectual disability v3.1520 ISCA-37394-Loss Ivone Leong commented on Region: ISCA-37394-Loss
Clefting v2.66 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Deafness and congenital structural abnormalities v1.19 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Familial non syndromic congenital heart disease v1.74 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Intellectual disability v3.1520 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Ocular coloboma v1.45 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Structural eye disease v1.117 ISCA-37393-Gain Ivone Leong commented on Region: ISCA-37393-Gain
Intellectual disability v3.1520 ISCA-37390-Loss Ivone Leong commented on Region: ISCA-37390-Loss
Severe microcephaly v2.294 ISCA-37390-Loss Ivone Leong commented on Region: ISCA-37390-Loss
IUGR and IGF abnormalities v1.51 ISCA-37392-Loss Arina Puzriakova commented on Region: ISCA-37392-Loss
Intellectual disability v3.1520 ISCA-37392-Loss Arina Puzriakova commented on Region: ISCA-37392-Loss
Growth failure in early childhood v1.101 ISCA-37392-Loss Arina Puzriakova commented on Region: ISCA-37392-Loss
Familial non syndromic congenital heart disease v1.74 ISCA-37392-Loss Arina Puzriakova commented on Region: ISCA-37392-Loss
Intellectual disability v3.1520 ISCA-37392-Gain Arina Puzriakova commented on Region: ISCA-37392-Gain
Limb disorders v2.75 ISCA-37394-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37394-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37494-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37494-Loss was changed from None to .
Required Overlap Percentage for ISCA-37494-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37494-Gain Arina Puzriakova Haploinsufficiency Score for ISCA-37494-Gain was changed from None to .
Required Overlap Percentage for ISCA-37494-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37439-Gain Arina Puzriakova GRCh38 position for ISCA-37439-Gain was changed from 154336276-154660745 to 154396223-154555683.
Required Overlap Percentage for ISCA-37439-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37468-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-46290-Gain Arina Puzriakova GRCh38 position for ISCA-46290-Gain was changed from 48447780-52444265 to 48447780-52444264.
Required Overlap Percentage for ISCA-46290-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-46299-Gain Arina Puzriakova Haploinsufficiency Score for ISCA-46299-Gain was changed from None to .
Required Overlap Percentage for ISCA-46299-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37423-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37423-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37423-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37423-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37392-Loss Arina Puzriakova GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172.
Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37392-Gain Arina Puzriakova GRCh38 position for ISCA-37392-Gain was changed from 73330451-74728175 to 73330452-74728172.
Required Overlap Percentage for ISCA-37392-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37425-Loss Arina Puzriakova GRCh38 position for ISCA-37425-Loss was changed from 176301975-177586960 to 176301976-177620792.
Required Overlap Percentage for ISCA-37425-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37425-Gain Arina Puzriakova GRCh38 position for ISCA-37425-Gain was changed from 176301975-177586960 to 176301976-177620792.
Required Overlap Percentage for ISCA-37425-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37390-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37390-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37429-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37443-Loss Arina Puzriakova GRCh38 position for ISCA-37443-Loss was changed from 196029183-197617794 to 196029183-197617791.
Required Overlap Percentage for ISCA-37443-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37394-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37394-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37405-Loss Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181.
Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30.
Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37440-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37408-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37408-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37397-Loss Arina Puzriakova GRCh38 position for ISCA-37397-Loss was changed from 21443089-23306926 to 21562828-23306924.
Required Overlap Percentage for ISCA-37397-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37397-Gain Arina Puzriakova GRCh38 position for ISCA-37397-Gain was changed from 21443089-23306926 to 21562828-23306924.
Required Overlap Percentage for ISCA-37397-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37446-Loss Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37446-Gain Arina Puzriakova GRCh38 position for ISCA-37446-Gain was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37433-Loss Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37433-Gain Arina Puzriakova GRCh38 position for ISCA-37433-Gain was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37493-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37493-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37421-Loss Arina Puzriakova GRCh38 position for ISCA-37421-Loss was changed from 147105904-147922392 to 147105904-147917509.
Required Overlap Percentage for ISCA-37421-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37421-Gain Arina Puzriakova GRCh38 position for ISCA-37421-Gain was changed from 147105904-147922392 to 147105904-147917509.
Required Overlap Percentage for ISCA-37421-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37434-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37434-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37501-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37501-Loss was changed from None to .
Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37420-Loss Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514.
Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37432-Gain Arina Puzriakova GRCh38 position for ISCA-37432-Gain was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37431-Loss Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.
Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37431-Gain Arina Puzriakova GRCh38 position for ISCA-37431-Gain was changed from 30835804-31891648 to 30780079-31937008.
Triplosensitivity Score for ISCA-37431-Gain was changed from 3 to 2.
Required Overlap Percentage for ISCA-37431-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37430-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37430-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37430-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37430-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37418-Loss Arina Puzriakova GRCh38 position for ISCA-37418-Loss was changed from 16853797-20316338 to 16906714-20309889.
Required Overlap Percentage for ISCA-37418-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37418-Gain Arina Puzriakova GRCh38 position for ISCA-37418-Gain was changed from 16853797-20316338 to 16906714-20309889.
Required Overlap Percentage for ISCA-37418-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37406-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37415-Loss Arina Puzriakova GRCh38 position for ISCA-37415-Loss was changed from 15410597-16198411 to 15417854-16198408.
Required Overlap Percentage for ISCA-37415-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37415-Gain Arina Puzriakova GRCh38 position for ISCA-37415-Gain was changed from 15410597-16198411 to 15417854-16198408.
Required Overlap Percentage for ISCA-37415-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37400-Loss Arina Puzriakova GRCh38 position for ISCA-37400-Loss was changed from 29638675-30188534 to 29638676-30188531.
Required Overlap Percentage for ISCA-37400-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37400-Gain Arina Puzriakova GRCh38 position for ISCA-37400-Gain was changed from 29638675-30188534 to 29638676-30188531.
Required Overlap Percentage for ISCA-37400-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37486-Loss Arina Puzriakova GRCh38 position for ISCA-37486-Loss was changed from 28811313-29035181 to 28811314-29035178.
Required Overlap Percentage for ISCA-37486-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37500-Loss Arina Puzriakova GRCh38 position for ISCA-37500-Loss was changed from 82534141-84045981 to 82534140-84045981.
Required Overlap Percentage for ISCA-37500-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37396-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37396-Loss was changed from None to .
Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-46295-Loss Arina Puzriakova GRCh38 position for ISCA-46295-Loss was changed from 31727418-32153205 to 31727418-32153204.
Required Overlap Percentage for ISCA-46295-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37411-Loss Arina Puzriakova GRCh38 position for ISCA-37411-Loss was changed from 30844901-32153207 to 30900686-32153204.
Required Overlap Percentage for ISCA-37411-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37478-Gain Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37404-Gain Arina Puzriakova GRCh38 position for ISCA-37404-Gain was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Gain was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37441-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37441-Loss was changed from 80 to 60.
Intellectual disability v3.1520 ISCA-37424-Loss Arina Puzriakova GRCh38 position for ISCA-37424-Loss was changed from 79923892-86983483 to 79923087-86979631.
Required Overlap Percentage for ISCA-37424-Loss was changed from 80 to 60.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.116 ISCA-37425-Loss Arina Puzriakova GRCh38 position for ISCA-37425-Loss was changed from 176301975-177586960 to 176301976-177620792.
Triplosensitivity Score for ISCA-37425-Loss was changed from to None.
Required Overlap Percentage for ISCA-37425-Loss was changed from 80 to 60.
Unexplained paediatric onset end-stage renal disease v1.33 ISCA-37405-Loss Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181.
Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30.
Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60.
Unexplained paediatric onset end-stage renal disease v1.33 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Unexplained paediatric onset end-stage renal disease v1.33 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Unexplained kidney failure in young people v1.105 ISCA-37405-Loss Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181.
Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30.
Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60.
Unexplained kidney failure in young people v1.105 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Unexplained kidney failure in young people v1.105 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Undiagnosed metabolic disorders v1.514 ISCA-37440-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60.
Extreme early-onset hypertension v1.14 TTC21B John Sayer edited their review of gene: TTC21B: Added comment: Careful literature review supports the notion that biallelic, often hypomorph, missense variants in TTC21B are commonly associated with early-onset hypertension and histological features of both FSGS and NPHP. Increased clinical recognition of this mixed glomerular and tubulointerstitial disease with often mild or absent features of a typical ciliopathy as well as inclusion of TTC21B on gene panels for early-onset arterial hypertension might shorten the diagnostic odyssey for patients affected by this rare tubuloglomerular kidney disease.; Changed publications to: 24876116, 26940125, 34957165, 34805047, PMID: 35289079
Tumour predisposition - childhood onset v2.26 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Structural eye disease v1.116 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Structural eye disease v1.116 ISCA-37396-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37396-Loss was changed from None to .
Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60.
Skeletal dysplasia v2.190 ISCA-37394-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37394-Loss was changed from 80 to 60.
Skeletal dysplasia v2.190 ISCA-37434-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37434-Loss was changed from 80 to 60.
Skeletal dysplasia v2.190 ISCA-37501-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37501-Loss was changed from None to .
Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.
Skeletal dysplasia v2.190 ISCA-37418-Loss Arina Puzriakova GRCh38 position for ISCA-37418-Loss was changed from 16853797-20316338 to 16906714-20309889.
Required Overlap Percentage for ISCA-37418-Loss was changed from 80 to 60.
Skeletal dysplasia v2.190 ISCA-37406-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60.
Skeletal dysplasia v2.190 ISCA-37441-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37441-Loss was changed from 80 to 60.
Severe microcephaly v2.294 ISCA-37425-Gain Arina Puzriakova GRCh38 position for ISCA-37425-Gain was changed from 176301975-177586960 to 176301976-177620792.
Haploinsufficiency Score for ISCA-37425-Gain was changed from None to .
Required Overlap Percentage for ISCA-37425-Gain was changed from 80 to 60.
Severe microcephaly v2.294 ISCA-37390-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37390-Loss was changed from None to .
Required Overlap Percentage for ISCA-37390-Loss was changed from 80 to 60.
Severe microcephaly v2.294 ISCA-37408-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37408-Loss was changed from None to .
Required Overlap Percentage for ISCA-37408-Loss was changed from 80 to 60.
Severe microcephaly v2.294 ISCA-37501-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37501-Loss was changed from None to .
Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.
Severe microcephaly v2.294 ISCA-37406-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37406-Loss was changed from None to .
Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60.
Severe early-onset obesity v2.49 ISCA-37486-Loss Arina Puzriakova GRCh38 position for ISCA-37486-Loss was changed from 28811313-29035181 to 28811314-29035178.
Triplosensitivity Score for ISCA-37486-Loss was changed from None to .
Required Overlap Percentage for ISCA-37486-Loss was changed from 80 to 60.
Severe early-onset obesity v2.49 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Triplosensitivity Score for ISCA-37478-Loss was changed from None to .
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Severe early-onset obesity v2.49 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Triplosensitivity Score for ISCA-37404-Loss was changed from None to .
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Renal ciliopathies v1.60 ISCA-37405-Loss Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181.
Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30.
Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60.
Renal ciliopathies v1.60 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
RASopathies v1.78 ISCA-37431-Loss Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.
Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.
Rare multisystem ciliopathy disorders v1.159 ISCA-37405-Loss Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181.
Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30.
Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60.
Rare multisystem ciliopathy disorders v1.159 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.537 ISCA-37446-Loss Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.537 ISCA-37433-Loss Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Pigmentary skin disorders v1.46 ISCA-37431-Loss Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.
Triplosensitivity Score for ISCA-37431-Loss was changed from None to .
Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.
Paroxysmal central nervous system disorders v1.41 ISCA-37468-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37429-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37408-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37408-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37420-Loss Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514.
Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Paediatric motor neuronopathies v1.77 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Ocular coloboma v1.45 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Ocular coloboma v1.45 ISCA-37396-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37396-Loss was changed from None to .
Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60.
Neurofibromatosis Type 1 v1.27 ISCA-37431-Loss Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.
Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.
Neurodegenerative disorders - adult onset v2.268 ISCA-37468-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37468-Loss was changed from None to .
Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Neurodegenerative disorders - adult onset v2.268 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Neurodegenerative disorders - adult onset v2.268 ISCA-37478-Gain Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Neurodegenerative disorders - adult onset v2.268 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Neonatal cholestasis v1.24 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Monogenic diabetes v2.47 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Mitochondrial disorders v2.93 ISCA-37440-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60.
Inborn errors of metabolism v2.230 ISCA-37440-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60.
Malformations of cortical development v2.137 ISCA-37430-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37430-Loss was changed from 80 to 60.
IUGR and IGF abnormalities v1.51 ISCA-37392-Loss Arina Puzriakova GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172.
Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60.
IUGR and IGF abnormalities v1.51 ISCA-37429-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
IUGR and IGF abnormalities v1.51 ISCA-37397-Loss Arina Puzriakova GRCh38 position for ISCA-37397-Loss was changed from 21443089-23306926 to 21562828-23306924.
Required Overlap Percentage for ISCA-37397-Loss was changed from 80 to 60.
IUGR and IGF abnormalities v1.51 ISCA-37420-Loss Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514.
Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60.
IUGR and IGF abnormalities v1.51 ISCA-37406-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60.
Ichthyosis and erythrokeratoderma v1.72 ISCA-37417-Loss Arina Puzriakova GRCh38 position for ISCA-37417-Loss was changed from 6537771-8156914 to 6537771-8156913.
Required Overlap Percentage for ISCA-37417-Loss was changed from 80 to 60.
Hereditary neuropathy v1.442 ISCA-37436-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37436-Loss was changed from 80 to 60.
Hereditary neuropathy v1.442 ISCA-37436-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37436-Gain was changed from 80 to 60.
Hereditary ataxia v1.299 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Hereditary ataxia v1.299 ISCA-37478-Gain Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Hereditary ataxia v1.299 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Hereditary ataxia - adult onset v2.148 ISCA-37468-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37468-Loss was changed from None to .
Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Hereditary ataxia - adult onset v2.148 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Triplosensitivity Score for ISCA-37478-Loss was changed from None to .
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Hereditary ataxia - adult onset v2.148 ISCA-37478-Gain Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Hereditary ataxia - adult onset v2.148 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Growth failure in early childhood v1.101 ISCA-37392-Loss Arina Puzriakova GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172.
Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60.
Growth failure in early childhood v1.101 ISCA-37429-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
Growth failure in early childhood v1.101 ISCA-37397-Loss Arina Puzriakova GRCh38 position for ISCA-37397-Loss was changed from 21443089-23306926 to 21562828-23306924.
Required Overlap Percentage for ISCA-37397-Loss was changed from 80 to 60.
Growth failure in early childhood v1.101 ISCA-37420-Loss Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514.
Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60.
Growth failure in early childhood v1.101 ISCA-37406-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-46290-Gain Arina Puzriakova GRCh38 position for ISCA-46290-Gain was changed from 48447780-52444265 to 48447780-52444264.
Haploinsufficiency Score for ISCA-46290-Gain was changed from None to .
Required Overlap Percentage for ISCA-46290-Gain was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37423-Gain Arina Puzriakova Haploinsufficiency Score for ISCA-37423-Gain was changed from None to .
Required Overlap Percentage for ISCA-37423-Gain was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37429-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37429-Loss was changed from None to .
Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37446-Loss Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37433-Loss Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37493-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37493-Loss was changed from None to .
Required Overlap Percentage for ISCA-37493-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37434-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37434-Loss was changed from None to .
Required Overlap Percentage for ISCA-37434-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37432-Gain Arina Puzriakova GRCh38 position for ISCA-37432-Gain was changed from 36458167-37854617 to 36458167-37854616.
Haploinsufficiency Score for ISCA-37432-Gain was changed from None to .
Required Overlap Percentage for ISCA-37432-Gain was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37430-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37430-Loss was changed from None to .
Required Overlap Percentage for ISCA-37430-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37415-Loss Arina Puzriakova GRCh38 position for ISCA-37415-Loss was changed from 15410597-16198411 to 15417854-16198408.
Triplosensitivity Score for ISCA-37415-Loss was changed from None to .
Required Overlap Percentage for ISCA-37415-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-46295-Loss Arina Puzriakova GRCh38 position for ISCA-46295-Loss was changed from 31727418-32153205 to 31727418-32153204.
Triplosensitivity Score for ISCA-46295-Loss was changed from None to .
Required Overlap Percentage for ISCA-46295-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37411-Loss Arina Puzriakova GRCh38 position for ISCA-37411-Loss was changed from 30844901-32153207 to 30900686-32153204.
Triplosensitivity Score for ISCA-37411-Loss was changed from None to .
Required Overlap Percentage for ISCA-37411-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Triplosensitivity Score for ISCA-37478-Loss was changed from None to .
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37478-Gain Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728.
Haploinsufficiency Score for ISCA-37478-Gain was changed from None to .
Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Genetic epilepsy syndromes v2.500 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Triplosensitivity Score for ISCA-37404-Loss was changed from None to .
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Familial Tumours Syndromes of the central & peripheral Nervous system v1.12 ISCA-37431-Loss Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.
Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37423-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37423-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37423-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37423-Gain was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37392-Loss Arina Puzriakova GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172.
Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37446-Loss Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37433-Loss Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37434-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37434-Loss was changed from 80 to 60.
Familial non syndromic congenital heart disease v1.74 ISCA-37501-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37501-Loss was changed from None to .
Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.
Familial diabetes v1.66 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Disorders of sex development v2.59 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Diabetes - neonatal onset v2.38 ISCA-37442-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37442-Gain was changed from 80 to 60.
Deafness and congenital structural abnormalities v1.19 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Deafness and congenital structural abnormalities v1.19 ISCA-37501-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37501-Loss was changed from None to .
Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.
Deafness and congenital structural abnormalities v1.19 ISCA-37396-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37396-Loss was changed from None to .
Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60.
Cystic kidney disease v2.36 ISCA-37405-Loss Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181.
Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30.
Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60.
Cystic kidney disease v2.36 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Craniosynostosis v2.67 ISCA-37420-Loss Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514.
Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60.
Craniosynostosis v2.67 ISCA-37441-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37441-Loss was changed from 80 to 60.
COVID-19 research v1.116 ISCA-37446-Loss Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
COVID-19 research v1.116 ISCA-37433-Loss Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Congenital myopathy v2.80 ISCA-37429-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
Congenital myopathy v2.80 ISCA-37408-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37408-Loss was changed from 80 to 60.
Congenital myopathy v2.80 ISCA-37420-Loss Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514.
Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60.
Congenital hypothyroidism v2.10 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Congenital hypothyroidism v2.10 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Clefting v2.66 ISCA-37423-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37423-Gain was changed from 80 to 60.
Clefting v2.66 ISCA-37467-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37467-Gain was changed from 80 to 60.
Clefting v2.66 ISCA-37393-Gain Arina Puzriakova Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Clefting v2.66 ISCA-37446-Loss Arina Puzriakova GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383.
Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
Clefting v2.66 ISCA-37433-Loss Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685.
Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.
Cardiomyopathies - including childhood onset v1.68 ISCA-37431-Loss Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.
Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.
CAKUT v1.167 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Brain channelopathy v1.78 ISCA-37468-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37468-Loss was changed from None to .
Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Autosomal recessive congenital ichthyosis v1.14 ISCA-37417-Loss Arina Puzriakova GRCh38 position for ISCA-37417-Loss was changed from 6537771-8156914 to 6537771-8156913.
Required Overlap Percentage for ISCA-37417-Loss was changed from 80 to 60.
Ataxia and cerebellar anomalies - narrow panel v2.289 ISCA-37478-Loss Arina Puzriakova GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Ataxia and cerebellar anomalies - narrow panel v2.289 ISCA-37478-Gain Arina Puzriakova GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728.
Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Ataxia and cerebellar anomalies - narrow panel v2.289 ISCA-37404-Loss Arina Puzriakova GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728.
Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Aniridia v2.15 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Adult solid tumours for rare disease v1.27 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Adult onset movement disorder v1.167 ISCA-37468-Loss Arina Puzriakova Triplosensitivity Score for ISCA-37468-Loss was changed from None to .
Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Severe microcephaly v2.293 DPP6 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: DPP6.
Monogenic hearing loss v2.237 COL9A3 Eleanor Williams Tag for-review was removed from gene: COL9A3.
Congenital myopathy v2.79 GFER Sarah Leigh changed review comment from: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
White matter disorders - adult onset v1.40 RNASET2 Sarah Leigh commented on gene: RNASET2
White matter disorders - adult onset v1.40 RNASET2 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: RNASET2.
White matter disorders - adult onset v1.40 POLR1C Sarah Leigh commented on gene: POLR1C
White matter disorders - adult onset v1.40 POLR1C Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: POLR1C.
White matter disorders - adult onset v1.40 MARS Sarah Leigh commented on gene: MARS
White matter disorders - adult onset v1.40 MARS Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: MARS.
White matter disorders - adult onset v1.40 COL4A2 Sarah Leigh commented on gene: COL4A2
White matter disorders - adult onset v1.40 COL4A2 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: COL4A2.
White matter disorders - adult onset v1.40 AARS Sarah Leigh commented on gene: AARS
White matter disorders - adult onset v1.40 AARS Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AARS.
Intellectual disability v3.1519 FAR1 Sarah Leigh reviewed gene: FAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439727, 30561787; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability v3.1519 FAR1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: FAR1.
Hydrocephalus v2.127 MYMK Sarah Leigh reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.127 MYMK Sarah Leigh Deleted their review
Hydrocephalus v2.127 MYMK Sarah Leigh commented on gene: MYMK: As the recommendation is to demote MYMK from Green to Amber on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Hydrocephalus v2.127 MYMK Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: MYMK.
Hydrocephalus v2.127 HYLS1 Sarah Leigh reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.127 HYLS1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: HYLS1.
Hydrocephalus v2.127 ERF Sarah Leigh reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.127 ERF Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: ERF.
Holoprosencephaly v2.27 DISP1 Sarah Leigh commented on gene: DISP1: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Holoprosencephaly v2.27 DISP1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: DISP1.
Childhood onset dystonia or chorea or related movement disorder v1.217 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Childhood onset dystonia or chorea or related movement disorder v1.217 AFG3L2 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AFG3L2.
Adult onset movement disorder v1.166 GBA Sarah Leigh reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset movement disorder v1.166 GBA Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: GBA.
Genetic epilepsy syndromes v2.499 EEF1A2 Sarah Leigh Mode of pathogenicity for gene: EEF1A2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Adult onset movement disorder v1.166 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Hereditary ataxia - adult onset v2.147 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Neurodegenerative disorders - adult onset v2.267 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Hereditary spastic paraplegia - adult onset v1.95 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Hereditary spastic paraplegia - childhood onset v2.130 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Hereditary spastic paraplegia v1.289 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Structural basal ganglia disorders v1.30 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Hereditary ataxia v1.298 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Brain channelopathy v1.77 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Parkinson Disease and Complex Parkinsonism v1.105 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG
Childhood onset dystonia or chorea or related movement disorder v1.217 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Adult onset movement disorder v1.166 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Hereditary ataxia - adult onset v2.147 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Neurodegenerative disorders - adult onset v2.267 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Hereditary spastic paraplegia - adult onset v1.95 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Hereditary spastic paraplegia - childhood onset v2.130 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Hereditary spastic paraplegia v1.289 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Paroxysmal central nervous system disorders v1.40 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Hereditary ataxia v1.298 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Brain channelopathy v1.77 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Parkinson Disease and Complex Parkinsonism v1.105 TBP_CAG Arina Puzriakova commented on STR: TBP_CAG
Hereditary spastic paraplegia - adult onset v1.95 AP4B1 Sarah Leigh commented on gene: AP4B1
Hereditary spastic paraplegia - adult onset v1.95 AP4S1 Sarah Leigh commented on gene: AP4S1
Hereditary spastic paraplegia - adult onset v1.95 AP4E1 Sarah Leigh commented on gene: AP4E1
Hereditary spastic paraplegia - adult onset v1.95 AP4M1 Sarah Leigh commented on gene: AP4M1
Hereditary spastic paraplegia - adult onset v1.95 AP4E1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AP4E1.
Hereditary spastic paraplegia - adult onset v1.95 AP4B1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AP4B1.
Hereditary spastic paraplegia - adult onset v1.95 AP4S1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AP4S1.
Hereditary spastic paraplegia - adult onset v1.95 AP4M1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AP4M1.
Hereditary neuropathy NOT PMP22 copy number v1.88 SLC12A6 Sarah Leigh commented on gene: SLC12A6: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Hereditary neuropathy NOT PMP22 copy number v1.88 SPTBN4 Sarah Leigh commented on gene: SPTBN4
Hereditary neuropathy NOT PMP22 copy number v1.88 NEMF Sarah Leigh commented on gene: NEMF
Adult onset movement disorder v1.166 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Genetic epilepsy syndromes v2.498 CPA6 Sarah Leigh commented on gene: CPA6: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Hereditary ataxia - adult onset v2.147 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Intellectual disability v3.1519 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Hereditary neuropathy v1.441 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Neurodegenerative disorders - adult onset v2.267 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Hereditary spastic paraplegia - adult onset v1.95 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Hereditary spastic paraplegia - childhood onset v2.130 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Hereditary spastic paraplegia v1.289 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Genetic epilepsy syndromes v2.498 SCN8A Sarah Leigh commented on gene: SCN8A: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Hereditary ataxia v1.298 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Parkinson Disease and Complex Parkinsonism v1.105 PPP2R2B_CAG Arina Puzriakova commented on STR: PPP2R2B_CAG
Possible mitochondrial disorder - nuclear genes v1.69 HPDL Sarah Leigh commented on gene: HPDL: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Mitochondrial disorders v2.92 HPDL Sarah Leigh commented on gene: HPDL: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Rhabdomyolysis and metabolic muscle disorders v1.78 ISCU Sarah Leigh commented on gene: ISCU: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Neurodegenerative disorders - adult onset v2.267 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Hereditary neuropathy v1.441 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Hereditary ataxia - adult onset v2.147 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Hereditary ataxia v1.298 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Ataxia and cerebellar anomalies - narrow panel v2.288 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Amyotrophic lateral sclerosis/motor neuron disease v1.56 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG
Genetic epilepsy syndromes v2.498 SLC5A6 Sarah Leigh commented on gene: SLC5A6: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Rhabdomyolysis and metabolic muscle disorders v1.78 ISCU Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: ISCU.
Lysosomal storage disorder v1.78 ARSG Sarah Leigh changed review comment from: 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.; to: 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 studies and animal models.
Adult onset movement disorder v1.166 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Neurodegenerative disorders - adult onset v2.267 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Early onset dystonia v1.111 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Parkinson Disease and Complex Parkinsonism v1.105 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Skeletal muscle channelopathy v1.39 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Hereditary ataxia - adult onset v2.147 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Mitochondrial disorders v2.92 FXN_GAA Sarah Leigh commented on STR: FXN_GAA: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Intellectual disability v3.1519 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary neuropathy v1.441 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Paroxysmal central nervous system disorders v1.40 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Inborn errors of metabolism v2.229 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Neurodegenerative disorders - adult onset v2.267 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary spastic paraplegia - adult onset v1.95 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary spastic paraplegia - childhood onset v2.130 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary spastic paraplegia v1.289 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hypertrophic cardiomyopathy - teen and adult v2.38 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hereditary ataxia v1.298 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Ataxia and cerebellar anomalies - narrow panel v2.288 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Skeletal Muscle Channelopathies v1.45 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Mitochondrial disorders v2.92 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Paediatric motor neuronopathies v1.76 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Intellectual disability v3.1519 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Gastrointestinal neuromuscular disorders v1.21 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Fetal hydrops v1.50 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Fetal anomalies v1.842 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Childhood onset dystonia or chorea or related movement disorder v1.217 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Adult onset movement disorder v1.166 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Hereditary ataxia - adult onset v2.147 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Intellectual disability v3.1519 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Genetic epilepsy syndromes v2.498 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Neurodegenerative disorders - adult onset v2.267 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Paroxysmal central nervous system disorders v1.40 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Hereditary ataxia v1.298 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Ataxia and cerebellar anomalies - narrow panel v2.288 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Brain channelopathy v1.77 CSTB_CCCCGCCCCGCG Sarah Leigh commented on STR: CSTB_CCCCGCCCCGCG
Inborn errors of metabolism v2.229 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
DDG2P v2.65 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Congenital myopathy v2.79 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Congenital muscular dystrophy v2.27 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Skeletal muscle channelopathy v1.39 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Skeletal Muscle Channelopathies v1.45 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Fetal anomalies v1.842 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Hereditary ataxia - adult onset v2.147 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Intellectual disability v3.1519 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Hereditary neuropathy v1.441 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Distal myopathies v1.45 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Hereditary ataxia v1.298 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Primary ovarian insufficiency v1.67 FMR1_CGG Sarah Leigh commented on STR: FMR1_CGG
Paroxysmal central nervous system disorders v1.40 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Neurodegenerative disorders - adult onset v2.267 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary spastic paraplegia - childhood onset v2.130 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary spastic paraplegia - adult onset v1.95 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary spastic paraplegia v1.289 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary ataxia - adult onset v2.147 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Hereditary ataxia v1.298 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Brain channelopathy v1.77 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Adult onset movement disorder v1.166 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Neurodegenerative disorders - adult onset v2.267 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism v1.105 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Intellectual disability v3.1519 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Childhood onset dystonia or chorea or related movement disorder v1.217 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Amyotrophic lateral sclerosis/motor neuron disease v1.56 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Adult onset movement disorder v1.166 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Neurodegenerative disorders - adult onset v2.267 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Undiagnosed metabolic disorders v1.513 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Intellectual disability v3.1519 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary spastic paraplegia - childhood onset v2.130 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary spastic paraplegia - adult onset v1.95 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary spastic paraplegia v1.289 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary neuropathy v1.441 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary ataxia - adult onset v2.147 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Hereditary ataxia v1.298 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Neurodegenerative disorders - adult onset v2.267 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Intellectual disability v3.1519 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary spastic paraplegia - childhood onset v2.130 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary spastic paraplegia - adult onset v1.95 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary spastic paraplegia v1.289 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary neuropathy v1.441 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary ataxia v1.298 ATXN3 Eleanor Williams Deleted their review
Hereditary ataxia v1.298 ATXN3 Eleanor Williams Deleted their comment
Hereditary ataxia v1.298 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary ataxia - adult onset v2.147 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Hereditary ataxia - adult onset v2.147 ATXN3 Eleanor Williams Deleted their review
Hereditary ataxia - adult onset v2.147 ATXN3 Eleanor Williams Deleted their comment
Hereditary ataxia - adult onset v2.147 ATXN3 Eleanor Williams commented on gene: ATXN3
Hereditary ataxia v1.298 ATXN3 Eleanor Williams commented on gene: ATXN3
Early onset dystonia v1.111 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Adult onset movement disorder v1.166 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Neurodegenerative disorders - adult onset v2.267 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Intellectual disability v3.1519 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary spastic paraplegia - childhood onset v2.130 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary spastic paraplegia - adult onset v1.95 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary spastic paraplegia v1.289 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary neuropathy v1.441 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary ataxia - adult onset v2.147 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Hereditary ataxia v1.298 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Early onset dystonia v1.111 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Childhood onset dystonia or chorea or related movement disorder v1.217 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Amyotrophic lateral sclerosis/motor neuron disease v1.56 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Adult onset movement disorder v1.166 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Thoracic dystrophies v1.18 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Skeletal dysplasia v2.189 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Neurodegenerative disorders - adult onset v2.267 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Intellectual disability v3.1519 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary spastic paraplegia - childhood onset v2.130 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary spastic paraplegia - adult onset v1.95 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary spastic paraplegia v1.289 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary neuropathy v1.441 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary ataxia - adult onset v2.147 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary ataxia v1.298 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Early onset dystonia v1.111 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN10_ATTCT Ivone Leong commented on STR: ATXN10_ATTCT
Hereditary ataxia v1.298 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Adult onset movement disorder v1.166 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Neurodegenerative disorders - adult onset v2.267 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Intellectual disability v3.1519 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary spastic paraplegia - childhood onset v2.130 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary spastic paraplegia - adult onset v1.95 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary spastic paraplegia v1.289 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary neuropathy v1.441 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Hereditary ataxia - adult onset v2.147 ATXN1_CAG Ivone Leong commented on STR: ATXN1_CAG
Paroxysmal central nervous system disorders v1.40 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Neurodegenerative disorders - adult onset v2.267 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Parkinson Disease and Complex Parkinsonism v1.105 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Hereditary ataxia - adult onset v2.147 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Hereditary ataxia v1.298 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Genetic epilepsy syndromes v2.498 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Brain channelopathy v1.77 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Ataxia and cerebellar anomalies - narrow panel v2.288 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Adult onset movement disorder v1.166 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Neurodegenerative disorders - adult onset v2.267 AR_CAG Ivone Leong commented on STR: AR_CAG
Paediatric motor neuronopathies v1.76 AR_CAG Ivone Leong commented on STR: AR_CAG
Hereditary neuropathy NOT PMP22 copy number v1.88 AR_CAG Ivone Leong commented on STR: AR_CAG
Hereditary neuropathy v1.441 AR_CAG Ivone Leong commented on STR: AR_CAG
Distal myopathies v1.45 AR_CAG Ivone Leong commented on STR: AR_CAG
Congenital myopathy v2.79 AR_CAG Ivone Leong commented on STR: AR_CAG
Amyotrophic lateral sclerosis/motor neuron disease v1.56 AR_CAG Ivone Leong commented on STR: AR_CAG
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Classified gene: LDB3 as Amber List (moderate evidence)
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber. This gene is associated with a phenotype in OMIM and Gene2Phenotype (requires clinical review). However, based on the expert reviews there is not enough evidence to support a gene-disease association. Therefore this gene has been given an Amber rating.
Dilated Cardiomyopathy and conduction defects v1.77 LDB3 Ivone Leong Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy and conduction defects v1.76 LDB3 Ivone Leong Added comment: Comment on publications: Added new publications
Dilated Cardiomyopathy and conduction defects v1.76 LDB3 Ivone Leong Publications for gene: LDB3 were set to
Segmental overgrowth disorders v2.16 PADI6 Catherine Snow Tag for-review was removed from gene: PADI6.
Segmental overgrowth disorders v2.16 SUZ12 Catherine Snow Tag for-review was removed from gene: SUZ12.
Segmental overgrowth disorders v2.16 SUZ12 Catherine Snow commented on gene: SUZ12
Segmental overgrowth disorders v2.16 PADI6 Catherine Snow commented on gene: PADI6
Segmental overgrowth disorders v2.15 SUZ12 Catherine Snow Source Expert Review Green was added to SUZ12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Segmental overgrowth disorders v2.15 PADI6 Catherine Snow Source Expert Review Green was added to PADI6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Pigmentary skin disorders v1.45 ANAPC1 Catherine Snow Tag for-review was removed from gene: ANAPC1.
Pigmentary skin disorders v1.45 ANAPC1 Catherine Snow commented on gene: ANAPC1
Pigmentary skin disorders v1.44 ANAPC1 Catherine Snow Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Palmoplantar keratodermas v1.12 ST14 Catherine Snow Tag for-review was removed from gene: ST14.
Palmoplantar keratodermas v1.12 ST14 Catherine Snow commented on gene: ST14
Palmoplantar keratodermas v1.11 ST14 Catherine Snow Source Expert Review Red was added to ST14.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow Tag for-review was removed from gene: ANAPC1.
Tag Q4_21_NHS_review was removed from gene: ANAPC1.
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow commented on gene: ANAPC1: Submitted on behalf of NHS GMS "Agree. There is an intronic variant which will be outside the targeted region of exomes which has been identified in multiple patients (c.2705-198C-T, NM_022662.3). This gene will also provide difficulties due to pseudogenes - coverage of uniquely mapping reads is ~50% (TWIST exome).""Green - mutations in ANAPC1 cause RTS type 1 (e.g. Ajeawung et al. AJHG 2019)"
Cutaneous photosensitivity with a likely genetic cause v1.10 ANAPC1 Catherine Snow commented on gene: ANAPC1
Cutaneous photosensitivity with a likely genetic cause v1.9 ANAPC1 Catherine Snow Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.37 C3orf52 Catherine Snow Tag for-review was removed from gene: C3orf52.
Ectodermal dysplasia v1.37 ANAPC1 Catherine Snow Tag for-review was removed from gene: ANAPC1.
Tag Q4_21_NHS_review was removed from gene: ANAPC1.
Ectodermal dysplasia v1.37 ST14 Catherine Snow Tag for-review was removed from gene: ST14.
Ectodermal dysplasia v1.37 ST14 Catherine Snow changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "I think we can keep ST14 green for ED because there is skin and hair involvement and some cases may well come as a hair phenotype query"; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Submitted on behalf of NHS GMS."I think we can keep ST14 green for ED because there is skin and hair involvement and some cases may well come as a hair phenotype query"
Ectodermal dysplasia v1.37 PRKD1 Catherine Snow changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)"; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS.
"Green - rare form of EB (telangietasia-ED-brachydactyly-cardia anomaly syndrome) (Alter et al. J Med Genet 2021)"
Ectodermal dysplasia v1.37 PRKD1 Catherine Snow Tag for-review was removed from gene: PRKD1.
Ectodermal dysplasia v1.37 C3orf52 Catherine Snow commented on gene: C3orf52
Ectodermal dysplasia v1.37 ANAPC1 Catherine Snow commented on gene: ANAPC1
Ectodermal dysplasia v1.37 ST14 Catherine Snow commented on gene: ST14
Ectodermal dysplasia v1.37 PRKD1 Catherine Snow commented on gene: PRKD1
Ectodermal dysplasia v1.36 C3orf52 Catherine Snow Source Expert Review Green was added to C3orf52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.36 ANAPC1 Catherine Snow Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.36 ST14 Catherine Snow Source Expert Review Green was added to ST14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ectodermal dysplasia v1.36 PRKD1 Catherine Snow Source Expert Review Green was added to PRKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CACNA1I Ivone Leong Tag Q4_21_rating was removed from gene: CACNA1I.
Intellectual disability v3.1519 ZNF699 Ivone Leong Tag Q4_21_rating was removed from gene: ZNF699.
Intellectual disability v3.1519 YIPF5 Ivone Leong Tag Q2_21_rating was removed from gene: YIPF5.
Intellectual disability v3.1519 WDR4 Ivone Leong Tag Q2_21_rating was removed from gene: WDR4.
Intellectual disability v3.1519 VPS41 Ivone Leong Tag Q2_21_rating was removed from gene: VPS41.
Intellectual disability v3.1519 VPS11 Ivone Leong Tag Q2_21_rating was removed from gene: VPS11.
Intellectual disability v3.1519 UFSP2 Ivone Leong Tag Q2_21_rating was removed from gene: UFSP2.
Tag Q2_21_expert_review was removed from gene: UFSP2.
Intellectual disability v3.1519 UBE4A Ivone Leong Tag Q2_21_rating was removed from gene: UBE4A.
Intellectual disability v3.1519 TP73 Ivone Leong Tag Q3_21_rating was removed from gene: TP73.
Intellectual disability v3.1519 TNPO2 Ivone Leong Tag Q3_21_rating was removed from gene: TNPO2.
Intellectual disability v3.1519 TMEM222 Ivone Leong Tag Q2_21_rating was removed from gene: TMEM222.
Intellectual disability v3.1519 TCF7L2 Ivone Leong Tag Q4_21_rating was removed from gene: TCF7L2.
Intellectual disability v3.1519 SYNCRIP Ivone Leong Tag Q3_21_rating was removed from gene: SYNCRIP.
Intellectual disability v3.1519 SPTBN1 Ivone Leong Tag Q3_21_rating was removed from gene: SPTBN1.
Intellectual disability v3.1519 SPEN Ivone Leong Tag Q2_21_rating was removed from gene: SPEN.
Intellectual disability v3.1519 SNIP1 Ivone Leong Tag Q4_21_expert_review was removed from gene: SNIP1.
Intellectual disability v3.1519 SMARCA5 Ivone Leong Tag Q2_21_rating was removed from gene: SMARCA5.
Tag Q2_21_NHS_review was removed from gene: SMARCA5.
Intellectual disability v3.1519 SIN3B Ivone Leong Tag Q2_21_rating was removed from gene: SIN3B.
Intellectual disability v3.1519 SIAH1 Ivone Leong Tag Q2_21_rating was removed from gene: SIAH1.
Intellectual disability v3.1519 SCYL1 Ivone Leong Tag Q2_21_rating was removed from gene: SCYL1.
Intellectual disability v3.1519 SATB1 Ivone Leong Tag Q2_21_rating was removed from gene: SATB1.
Intellectual disability v3.1519 RFX7 Ivone Leong Tag Q3_21_rating was removed from gene: RFX7.
Intellectual disability v3.1519 RFX4 Ivone Leong Tag Q3_21_rating was removed from gene: RFX4.
Intellectual disability v3.1519 RFX3 Ivone Leong Tag Q3_21_rating was removed from gene: RFX3.
Intellectual disability v3.1519 PTPN4 Ivone Leong Tag Q3_21_rating was removed from gene: PTPN4.
Intellectual disability v3.1519 PRICKLE2 Ivone Leong Tag Q4_21_rating was removed from gene: PRICKLE2.
Intellectual disability v3.1519 PIGC Ivone Leong Tag Q2_21_rating was removed from gene: PIGC.
Intellectual disability v3.1519 PIDD1 Ivone Leong Tag Q3_21_rating was removed from gene: PIDD1.
Intellectual disability v3.1519 PI4KA Ivone Leong Tag Q3_21_rating was removed from gene: PI4KA.
Intellectual disability v3.1519 PGM2L1 Ivone Leong Tag Q3_21_rating was removed from gene: PGM2L1.
Intellectual disability v3.1519 PCDHGC4 Ivone Leong Tag Q3_21_rating was removed from gene: PCDHGC4.
Intellectual disability v3.1519 OTUD5 Ivone Leong Tag Q2_21_rating was removed from gene: OTUD5.
Intellectual disability v3.1519 NEUROD2 Ivone Leong Tag Q2_21_rating was removed from gene: NEUROD2.
Intellectual disability v3.1519 NCKAP1 Ivone Leong Tag Q2_21_rating was removed from gene: NCKAP1.
Intellectual disability v3.1519 NCDN Ivone Leong Tag Q2_21_rating was removed from gene: NCDN.
Intellectual disability v3.1519 MINPP1 Ivone Leong Tag Q2_21_rating was removed from gene: MINPP1.
Intellectual disability v3.1519 MED27 Ivone Leong Tag Q2_21_rating was removed from gene: MED27.
Intellectual disability v3.1519 MAP1B Ivone Leong Tag Q3_21_rating was removed from gene: MAP1B.
Intellectual disability v3.1519 LINGO4 Ivone Leong Tag Q3_21_rating was removed from gene: LINGO4.
Intellectual disability v3.1519 KCND2 Ivone Leong Tag Q4_21_rating was removed from gene: KCND2.
Intellectual disability v3.1519 KDM3B Ivone Leong Tag Q2_21_rating was removed from gene: KDM3B.
Intellectual disability v3.1519 KCNN2 Ivone Leong Tag Q2_21_rating was removed from gene: KCNN2.
Intellectual disability v3.1519 IMPDH2 Ivone Leong Tag Q3_21_rating was removed from gene: IMPDH2.
Intellectual disability v3.1519 HPDL Ivone Leong Tag Q2_21_rating was removed from gene: HPDL.
Intellectual disability v3.1519 HNMT Ivone Leong Tag Q3_21_rating was removed from gene: HNMT.
Tag Q3_21_NHS_review was removed from gene: HNMT.
Intellectual disability v3.1519 HIST1H4C Ivone Leong Tag Q3_21_rating was removed from gene: HIST1H4C.
Intellectual disability v3.1519 HID1 Ivone Leong Tag Q3_21_rating was removed from gene: HID1.
Intellectual disability v3.1519 GTF2E2 Ivone Leong Tag Q3_21_rating was removed from gene: GTF2E2.
Intellectual disability v3.1519 GNB2 Ivone Leong Tag Q3_21_rating was removed from gene: GNB2.
Intellectual disability v3.1519 GEMIN5 Ivone Leong Tag Q2_21_rating was removed from gene: GEMIN5.
Intellectual disability v3.1519 GABRD Ivone Leong Tag Q4_21_rating was removed from gene: GABRD.
Intellectual disability v3.1519 FARSA Ivone Leong Tag Q4_21_rating was removed from gene: FARSA.
Intellectual disability v3.1519 FBXO31 Ivone Leong Tag Q2_21_rating was removed from gene: FBXO31.
Intellectual disability v3.1519 ERBB4 Ivone Leong Tag Q2_21_rating was removed from gene: ERBB4.
Tag Q2_21_NHS_review was removed from gene: ERBB4.
Intellectual disability v3.1519 EMC10 Ivone Leong Tag Q2_21_rating was removed from gene: EMC10.
Intellectual disability v3.1519 EIF5A Ivone Leong Tag Q2_21_rating was removed from gene: EIF5A.
Intellectual disability v3.1519 DPYSL5 Ivone Leong Tag Q3_21_rating was removed from gene: DPYSL5.
Intellectual disability v3.1519 DPYS Ivone Leong Tag Q2_21_expert_review was removed from gene: DPYS.
Intellectual disability v3.1519 DPM2 Ivone Leong Tag Q2_21_rating was removed from gene: DPM2.
Intellectual disability v3.1519 DDB1 Ivone Leong Tag Q2_21_rating was removed from gene: DDB1.
Intellectual disability v3.1519 CAMK4 Ivone Leong Tag Q3_21_rating was removed from gene: CAMK4.
Intellectual disability v3.1519 CLCN3 Ivone Leong Tag Q3_21_rating was removed from gene: CLCN3.
Intellectual disability v3.1519 CHD5 Ivone Leong Tag Q3_21_rating was removed from gene: CHD5.
Intellectual disability v3.1519 CEP85L Ivone Leong Tag Q3_21_rating was removed from gene: CEP85L.
Intellectual disability v3.1519 CAPN15 Ivone Leong Tag Q2_21_rating was removed from gene: CAPN15.
Intellectual disability v3.1519 CPE Ivone Leong Tag Q3_21_rating was removed from gene: CPE.
Intellectual disability v3.1519 COPB2 Ivone Leong Tag Q3_21_rating was removed from gene: COPB2.
Intellectual disability v3.1519 CTC1 Ivone Leong Tag Q3_21_rating was removed from gene: CTC1.
Intellectual disability v3.1519 CDH15 Ivone Leong Tag watchlist was removed from gene: CDH15.
Intellectual disability v3.1519 CDH15 Ivone Leong Tag Q4_21_rating was removed from gene: CDH15.
Tag watchlist tag was added to gene: CDH15.
Intellectual disability v3.1519 BCAS3 Ivone Leong Tag Q2_21_rating was removed from gene: BCAS3.
Intellectual disability v3.1519 ATP9A Ivone Leong Tag Q4_21_rating was removed from gene: ATP9A.
Intellectual disability v3.1519 ATP1A3 Ivone Leong Tag Q3_21_expert_review was removed from gene: ATP1A3.
Intellectual disability v3.1519 ARFGEF1 Ivone Leong Tag Q4_21_rating was removed from gene: ARFGEF1.
Intellectual disability v3.1519 ARF1 Ivone Leong Tag Q3_21_rating was removed from gene: ARF1.
Intellectual disability v3.1519 AP1G1 Ivone Leong Tag Q3_21_rating was removed from gene: AP1G1.
Intellectual disability v3.1519 ANKRD17 Ivone Leong Tag Q2_21_rating was removed from gene: ANKRD17.
Intellectual disability v3.1519 ANK2 Ivone Leong Tag Q3_21_rating was removed from gene: ANK2.
Intellectual disability v3.1519 AGO1 Ivone Leong Tag Q2_21_expert_review was removed from gene: AGO1.
Intellectual disability v3.1519 ABHD16A Ivone Leong Tag Q4_21_rating was removed from gene: ABHD16A.
Intellectual disability v3.1519 POLR3B Ivone Leong Tag Q2_21_MOI was removed from gene: POLR3B.
Intellectual disability v3.1519 PHF6 Ivone Leong Tag Q4_21_MOI was removed from gene: PHF6.
Intellectual disability v3.1519 MED12 Ivone Leong Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Intellectual disability v3.1519 HCCS Ivone Leong Tag Q4_21_MOI was removed from gene: HCCS.
Intellectual disability v3.1519 GRIK2 Ivone Leong Tag Q4_21_MOI was removed from gene: GRIK2.
Intellectual disability v3.1519 CLPB Ivone Leong Tag Q4_21_MOI was removed from gene: CLPB.
Intellectual disability v3.1519 ZNF699 Sarah Leigh commented on gene: ZNF699
Intellectual disability v3.1519 YIPF5 Sarah Leigh commented on gene: YIPF5
Intellectual disability v3.1519 WDR4 Sarah Leigh commented on gene: WDR4
Intellectual disability v3.1519 VPS41 Sarah Leigh commented on gene: VPS41
Intellectual disability v3.1519 VPS11 Sarah Leigh commented on gene: VPS11
Intellectual disability v3.1519 UFSP2 Sarah Leigh commented on gene: UFSP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 UBE4A Sarah Leigh commented on gene: UBE4A
Intellectual disability v3.1519 TP73 Sarah Leigh commented on gene: TP73
Intellectual disability v3.1519 TNPO2 Sarah Leigh commented on gene: TNPO2
Intellectual disability v3.1519 TMEM222 Sarah Leigh commented on gene: TMEM222: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 TCF7L2 Sarah Leigh commented on gene: TCF7L2
Intellectual disability v3.1519 SYNCRIP Sarah Leigh commented on gene: SYNCRIP
Intellectual disability v3.1519 SPTBN1 Sarah Leigh commented on gene: SPTBN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 SPEN Sarah Leigh commented on gene: SPEN
Intellectual disability v3.1519 SNIP1 Sarah Leigh commented on gene: SNIP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 SMARCA5 Sarah Leigh commented on gene: SMARCA5
Intellectual disability v3.1519 SIN3B Sarah Leigh commented on gene: SIN3B
Intellectual disability v3.1519 SIAH1 Sarah Leigh commented on gene: SIAH1
Intellectual disability v3.1519 SCYL1 Sarah Leigh commented on gene: SCYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 SATB1 Sarah Leigh commented on gene: SATB1
Intellectual disability v3.1519 RFX7 Sarah Leigh commented on gene: RFX7
Intellectual disability v3.1519 RFX4 Sarah Leigh commented on gene: RFX4
Intellectual disability v3.1519 RFX3 Sarah Leigh commented on gene: RFX3
Intellectual disability v3.1519 PTPN4 Sarah Leigh commented on gene: PTPN4
Intellectual disability v3.1519 PRICKLE2 Sarah Leigh commented on gene: PRICKLE2
Intellectual disability v3.1519 POLR3B Sarah Leigh commented on gene: POLR3B
Intellectual disability v3.1519 PIGC Sarah Leigh commented on gene: PIGC
Intellectual disability v3.1519 PIDD1 Sarah Leigh commented on gene: PIDD1
Intellectual disability v3.1519 PI4KA Sarah Leigh commented on gene: PI4KA
Intellectual disability v3.1519 PHF6 Sarah Leigh commented on gene: PHF6
Intellectual disability v3.1519 PGM2L1 Sarah Leigh commented on gene: PGM2L1
Intellectual disability v3.1519 PCDHGC4 Sarah Leigh commented on gene: PCDHGC4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 OTUD5 Sarah Leigh commented on gene: OTUD5
Intellectual disability v3.1519 NEUROD2 Sarah Leigh commented on gene: NEUROD2
Intellectual disability v3.1519 NCKAP1 Sarah Leigh commented on gene: NCKAP1
Intellectual disability v3.1519 NCDN Sarah Leigh commented on gene: NCDN
Intellectual disability v3.1519 MINPP1 Sarah Leigh commented on gene: MINPP1
Intellectual disability v3.1519 MED27 Sarah Leigh commented on gene: MED27
Intellectual disability v3.1519 MED12 Sarah Leigh commented on gene: MED12
Intellectual disability v3.1519 MAP1B Sarah Leigh commented on gene: MAP1B
Intellectual disability v3.1519 LINGO4 Sarah Leigh commented on gene: LINGO4
Intellectual disability v3.1519 KDM3B Sarah Leigh commented on gene: KDM3B
Intellectual disability v3.1519 KCNN2 Sarah Leigh commented on gene: KCNN2
Intellectual disability v3.1519 KCND2 Sarah Leigh commented on gene: KCND2
Intellectual disability v3.1519 IMPDH2 Sarah Leigh commented on gene: IMPDH2
Intellectual disability v3.1519 HPDL Sarah Leigh commented on gene: HPDL
Intellectual disability v3.1519 HNMT Sarah Leigh commented on gene: HNMT
Intellectual disability v3.1519 HIST1H4C Sarah Leigh commented on gene: HIST1H4C
Intellectual disability v3.1519 HID1 Sarah Leigh commented on gene: HID1
Intellectual disability v3.1519 HCCS Sarah Leigh commented on gene: HCCS
Intellectual disability v3.1519 GTF2E2 Sarah Leigh commented on gene: GTF2E2
Intellectual disability v3.1519 GRIK2 Sarah Leigh commented on gene: GRIK2
Intellectual disability v3.1519 GNB2 Sarah Leigh commented on gene: GNB2
Intellectual disability v3.1519 GEMIN5 Sarah Leigh commented on gene: GEMIN5
Intellectual disability v3.1519 GABRD Sarah Leigh commented on gene: GABRD
Intellectual disability v3.1519 FBXO31 Sarah Leigh commented on gene: FBXO31
Intellectual disability v3.1519 FARSA Sarah Leigh commented on gene: FARSA
Intellectual disability v3.1519 ERBB4 Sarah Leigh commented on gene: ERBB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 EMC10 Sarah Leigh commented on gene: EMC10
Intellectual disability v3.1519 EIF5A Sarah Leigh commented on gene: EIF5A
Intellectual disability v3.1519 DPYSL5 Sarah Leigh commented on gene: DPYSL5
Intellectual disability v3.1519 DPYS Sarah Leigh commented on gene: DPYS
Intellectual disability v3.1519 DPM2 Sarah Leigh commented on gene: DPM2
Intellectual disability v3.1519 DDB1 Sarah Leigh commented on gene: DDB1
Intellectual disability v3.1519 CTC1 Sarah Leigh commented on gene: CTC1
Intellectual disability v3.1519 CPE Sarah Leigh commented on gene: CPE
Intellectual disability v3.1519 COPB2 Sarah Leigh commented on gene: COPB2
Intellectual disability v3.1519 CLPB Sarah Leigh commented on gene: CLPB
Intellectual disability v3.1519 CLCN3 Sarah Leigh commented on gene: CLCN3
Intellectual disability v3.1519 CHD5 Sarah Leigh commented on gene: CHD5
Intellectual disability v3.1519 CEP85L Sarah Leigh commented on gene: CEP85L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 CDH15 Sarah Leigh commented on gene: CDH15
Intellectual disability v3.1519 CAPN15 Sarah Leigh commented on gene: CAPN15
Intellectual disability v3.1519 CAMK4 Sarah Leigh commented on gene: CAMK4
Intellectual disability v3.1519 CACNA1I Sarah Leigh commented on gene: CACNA1I
Intellectual disability v3.1519 BCAS3 Sarah Leigh commented on gene: BCAS3
Intellectual disability v3.1519 ATP9A Sarah Leigh commented on gene: ATP9A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 ATP1A3 Sarah Leigh commented on gene: ATP1A3
Intellectual disability v3.1519 ARFGEF1 Sarah Leigh commented on gene: ARFGEF1
Intellectual disability v3.1519 ARF1 Sarah Leigh commented on gene: ARF1
Intellectual disability v3.1519 AP1G1 Sarah Leigh commented on gene: AP1G1
Intellectual disability v3.1519 ANKRD17 Sarah Leigh commented on gene: ANKRD17
Intellectual disability v3.1519 ANK2 Sarah Leigh commented on gene: ANK2
Intellectual disability v3.1519 AGO1 Sarah Leigh commented on gene: AGO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1519 ABHD16A Sarah Leigh commented on gene: ABHD16A
Intellectual disability v3.1519 ZNF699 Ivone Leong Source Expert Review Green was added to ZNF699.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 YIPF5 Ivone Leong Source Expert Review Green was added to YIPF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 WDR4 Ivone Leong Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 VPS41 Ivone Leong Source Expert Review Green was added to VPS41.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 VPS11 Ivone Leong Source Expert Review Green was added to VPS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 UFSP2 Ivone Leong Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 UBE4A Ivone Leong Source Expert Review Green was added to UBE4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 TP73 Ivone Leong Source Expert Review Green was added to TP73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 TNPO2 Ivone Leong Source Expert Review Green was added to TNPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 TMEM222 Ivone Leong Source Expert Review Green was added to TMEM222.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 TCF7L2 Ivone Leong Source Expert Review Green was added to TCF7L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SYNCRIP Ivone Leong Source Expert Review Green was added to SYNCRIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SPTBN1 Ivone Leong Source Expert Review Green was added to SPTBN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SPEN Ivone Leong Source Expert Review Green was added to SPEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SNIP1 Ivone Leong Source Expert Review Green was added to SNIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SMARCA5 Ivone Leong Source Expert Review Green was added to SMARCA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SIN3B Ivone Leong Source Expert Review Green was added to SIN3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SIAH1 Ivone Leong Source Expert Review Green was added to SIAH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SCYL1 Ivone Leong Source Expert Review Green was added to SCYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 SATB1 Ivone Leong Source Expert Review Green was added to SATB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 RFX7 Ivone Leong Source Expert Review Green was added to RFX7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 RFX4 Ivone Leong Source Expert Review Green was added to RFX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 RFX3 Ivone Leong Source Expert Review Green was added to RFX3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PTPN4 Ivone Leong Source Expert Review Green was added to PTPN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PRICKLE2 Ivone Leong Source Expert Review Green was added to PRICKLE2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 POLR3B Ivone Leong Source NHS GMS was added to POLR3B.
Mode of inheritance for gene POLR3B was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v3.1519 PIGC Ivone Leong Source Expert Review Green was added to PIGC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PIDD1 Ivone Leong Source Expert Review Green was added to PIDD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PI4KA Ivone Leong Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PHF6 Ivone Leong Source NHS GMS was added to PHF6.
Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v3.1519 PGM2L1 Ivone Leong Source Expert Review Green was added to PGM2L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 PCDHGC4 Ivone Leong Source Expert Review Green was added to PCDHGC4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 OTUD5 Ivone Leong Source Expert Review Green was added to OTUD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 NEUROD2 Ivone Leong Source Expert Review Green was added to NEUROD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 NCKAP1 Ivone Leong Source Expert Review Green was added to NCKAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 NCDN Ivone Leong Source Expert Review Green was added to NCDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 MINPP1 Ivone Leong Source Expert Review Green was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 MED27 Ivone Leong Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 MED12 Ivone Leong Source NHS GMS was added to MED12.
Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v3.1519 MAP1B Ivone Leong Source Expert Review Green was added to MAP1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 LINGO4 Ivone Leong Source Expert Review Green was added to LINGO4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 KDM3B Ivone Leong Source Expert Review Green was added to KDM3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 KCNN2 Ivone Leong Source Expert Review Green was added to KCNN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 KCND2 Ivone Leong Source Expert Review Green was added to KCND2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 IMPDH2 Ivone Leong Source Expert Review Green was added to IMPDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HPDL Ivone Leong Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HNMT Ivone Leong Source Expert Review Green was added to HNMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HIST1H4C Ivone Leong Source Expert Review Green was added to HIST1H4C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HID1 Ivone Leong Source Expert Review Green was added to HID1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Mode of inheritance for gene HCCS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v3.1519 GTF2E2 Ivone Leong Source Expert Review Green was added to GTF2E2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 GRIK2 Ivone Leong Source NHS GMS was added to GRIK2.
Mode of inheritance for gene GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.1519 GNB2 Ivone Leong Source Expert Review Green was added to GNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 GEMIN5 Ivone Leong Source Expert Review Green was added to GEMIN5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 GABRD Ivone Leong Source Expert Review Green was added to GABRD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 FBXO31 Ivone Leong Source Expert Review Green was added to FBXO31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 FARSA Ivone Leong Source Expert Review Green was added to FARSA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ERBB4 Ivone Leong Source Expert Review Green was added to ERBB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 EMC10 Ivone Leong Source Expert Review Green was added to EMC10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 EIF5A Ivone Leong Source Expert Review Green was added to EIF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 DPYSL5 Ivone Leong Source Expert Review Green was added to DPYSL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 DPYS Ivone Leong Source Expert Review Green was added to DPYS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 DPM2 Ivone Leong Source Expert Review Green was added to DPM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 DDB1 Ivone Leong Source Expert Review Green was added to DDB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CTC1 Ivone Leong Source Expert Review Amber was added to CTC1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.1519 CPE Ivone Leong Source Expert Review Green was added to CPE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 COPB2 Ivone Leong Source Expert Review Green was added to COPB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CLPB Ivone Leong Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.1519 CLCN3 Ivone Leong Source Expert Review Green was added to CLCN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CHD5 Ivone Leong Source Expert Review Green was added to CHD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CEP85L Ivone Leong Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CDH15 Ivone Leong Source Expert Review Red was added to CDH15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1519 CAPN15 Ivone Leong Source Expert Review Green was added to CAPN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CAMK4 Ivone Leong Source Expert Review Green was added to CAMK4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 CACNA1I Ivone Leong Source Expert Review Green was added to CACNA1I.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 BCAS3 Ivone Leong Source Expert Review Green was added to BCAS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ATP9A Ivone Leong Source Expert Review Green was added to ATP9A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ATP1A3 Ivone Leong Source Expert Review Green was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ARFGEF1 Ivone Leong Source Expert Review Green was added to ARFGEF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ARF1 Ivone Leong Source Expert Review Green was added to ARF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 AP1G1 Ivone Leong Source Expert Review Green was added to AP1G1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ANKRD17 Ivone Leong Source Expert Review Green was added to ANKRD17.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 ANK2 Ivone Leong Source Expert Review Green was added to ANK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 AGO1 Ivone Leong Source Expert Review Green was added to AGO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.1519 AFG3L2 Ivone Leong Source NHS GMS was added to AFG3L2.
Intellectual disability v3.1519 ABHD16A Ivone Leong Source Expert Review Green was added to ABHD16A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lysosomal storage disorder v1.78 VPS16 Ivone Leong Tag Q2_21_rating was removed from gene: VPS16.
Tag Q2_21_MOI was removed from gene: VPS16.
Lysosomal storage disorder v1.78 VPS16 Sarah Leigh commented on gene: VPS16
Lysosomal storage disorder v1.77 VPS16 Ivone Leong Source Expert Review Green was added to VPS16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Lipoprotein lipase deficiency v1.21 APOB Ivone Leong Tag Q3_21_NHS_review was removed from gene: APOB.
Tag Q3_21_expert_review was removed from gene: APOB.
Lipoprotein lipase deficiency v1.21 APOB Sarah Leigh commented on gene: APOB: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Lipoprotein lipase deficiency v1.20 APOB Ivone Leong Source Expert Review Red was added to APOB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Inborn errors of metabolism v2.229 TARS2 Ivone Leong Tag Q4_21_rating was removed from gene: TARS2.
Inborn errors of metabolism v2.229 POMK Ivone Leong Tag Q2_21_rating was removed from gene: POMK.
Inborn errors of metabolism v2.229 NDUFC2 Ivone Leong Tag Q2_21_rating was removed from gene: NDUFC2.
Inborn errors of metabolism v2.229 NDUFA12 Ivone Leong Tag Q2_21_rating was removed from gene: NDUFA12.
Inborn errors of metabolism v2.229 GALNT2 Ivone Leong Tag Q2_21_rating was removed from gene: GALNT2.
Inborn errors of metabolism v2.229 EOGT Ivone Leong Tag Q2_21_rating was removed from gene: EOGT.
Inborn errors of metabolism v2.229 EHBP1L1 Ivone Leong Tag Q4_21_rating was removed from gene: EHBP1L1.
Inborn errors of metabolism v2.229 CSGALNACT1 Ivone Leong Tag Q2_21_rating was removed from gene: CSGALNACT1.
Inborn errors of metabolism v2.229 B4GALNT1 Ivone Leong Tag Q2_21_rating was removed from gene: B4GALNT1.
Inborn errors of metabolism v2.229 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Inborn errors of metabolism v2.229 CLPB Ivone Leong Tag Q4_21_MOI was removed from gene: CLPB.
Inborn errors of metabolism v2.229 NAXD Ivone Leong Tag Q2_21_rating was removed from gene: NAXD.
Inborn errors of metabolism v2.229 NAXD Sarah Leigh commented on gene: NAXD
Inborn errors of metabolism v2.229 TARS2 Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Inborn errors of metabolism v2.229 POMK Sarah Leigh commented on gene: POMK: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Inborn errors of metabolism v2.229 NDUFC2 Sarah Leigh commented on gene: NDUFC2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Inborn errors of metabolism v2.229 NDUFA12 Sarah Leigh commented on gene: NDUFA12: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Inborn errors of metabolism v2.229 GALNT2 Sarah Leigh commented on gene: GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Inborn errors of metabolism v2.229 FAR1 Sarah Leigh commented on gene: FAR1
Inborn errors of metabolism v2.229 EOGT Sarah Leigh commented on gene: EOGT: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Inborn errors of metabolism v2.229 EHBP1L1 Sarah Leigh commented on gene: EHBP1L1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Inborn errors of metabolism v2.229 CSGALNACT1 Sarah Leigh commented on gene: CSGALNACT1
Inborn errors of metabolism v2.229 CLPB Sarah Leigh commented on gene: CLPB
Inborn errors of metabolism v2.229 B4GALNT1 Sarah Leigh commented on gene: B4GALNT1: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Inborn errors of metabolism v2.229 NAXD Ivone Leong Source Expert Review Green was added to NAXD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 TARS2 Ivone Leong Source Expert Review Green was added to TARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 POMK Ivone Leong Source Expert Review Green was added to POMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 NDUFC2 Ivone Leong Source Expert Review Green was added to NDUFC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 NDUFA12 Ivone Leong Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 GALNT2 Ivone Leong Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 FAR1 Ivone Leong Source Expert Review Red was added to FAR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Inborn errors of metabolism v2.229 EOGT Ivone Leong Source Expert Review Green was added to EOGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 EHBP1L1 Ivone Leong Source Expert Review Green was added to EHBP1L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 CSGALNACT1 Ivone Leong Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inborn errors of metabolism v2.229 CLPB Ivone Leong Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inborn errors of metabolism v2.229 B4GALNT1 Ivone Leong Source Expert Review Green was added to B4GALNT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
White matter disorders and cerebral calcification - narrow panel v1.224 FIG4 Ivone Leong Tag Q2_21_rating was removed from gene: FIG4.
White matter disorders and cerebral calcification - narrow panel v1.224 FIG4 Sarah Leigh commented on gene: FIG4
White matter disorders and cerebral calcification - narrow panel v1.224 FIG4 Ivone Leong Source Expert Review Green was added to FIG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.127 B4GAT1 Ivone Leong Tag Q3_21_rating was removed from gene: B4GAT1.
Hydrocephalus v2.127 EEF2 Ivone Leong Tag Q2_21_rating was removed from gene: EEF2.
Hydrocephalus v2.127 KIDINS220 Ivone Leong Tag deletions was removed from gene: KIDINS220.
Hydrocephalus v2.127 KIDINS220 Ivone Leong Tag Q2_21_rating was removed from gene: KIDINS220.
Tag deletions tag was added to gene: KIDINS220.
Hydrocephalus v2.127 MPDZ Ivone Leong Tag Q2_21_rating was removed from gene: MPDZ.
Hydrocephalus v2.127 SMARCC1 Ivone Leong Tag Q2_21_rating was removed from gene: SMARCC1.
Hydrocephalus v2.127 TBC1D32 Ivone Leong Tag Q4_21_rating was removed from gene: TBC1D32.
Hydrocephalus v2.127 TCIRG1 Ivone Leong Tag Q4_21_rating was removed from gene: TCIRG1.
Hydrocephalus v2.127 TNFRSF11A Ivone Leong Tag Q4_21_rating was removed from gene: TNFRSF11A.
Hydrocephalus v2.127 TRIM71 Ivone Leong Tag Q2_21_rating was removed from gene: TRIM71.
Hydrocephalus v2.127 TRIM71 Sarah Leigh commented on gene: TRIM71
Hydrocephalus v2.127 TNFRSF11A Sarah Leigh commented on gene: TNFRSF11A
Hydrocephalus v2.127 TCIRG1 Sarah Leigh commented on gene: TCIRG1
Hydrocephalus v2.127 TBC1D32 Sarah Leigh commented on gene: TBC1D32
Hydrocephalus v2.127 SMARCC1 Sarah Leigh commented on gene: SMARCC1
Hydrocephalus v2.127 MPDZ Sarah Leigh commented on gene: MPDZ
Hydrocephalus v2.127 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Hydrocephalus v2.127 EEF2 Sarah Leigh commented on gene: EEF2
Hydrocephalus v2.127 B4GAT1 Sarah Leigh commented on gene: B4GAT1
Hydrocephalus v2.126 TRIM71 Ivone Leong Source Expert Review Green was added to TRIM71.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TNFRSF11A Ivone Leong Source Expert Review Green was added to TNFRSF11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TCIRG1 Ivone Leong Source Expert Review Green was added to TCIRG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TBC1D32 Ivone Leong Source Expert Review Green was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 SMARCC1 Ivone Leong Source Expert Review Green was added to SMARCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 MPDZ Ivone Leong Source Expert Review Green was added to MPDZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 KIDINS220 Ivone Leong Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 EEF2 Ivone Leong Source Expert Review Green was added to EEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 B4GAT1 Ivone Leong Source Expert Review Green was added to B4GAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Holoprosencephaly v2.27 KMT2D Ivone Leong Tag Q3_21_rating was removed from gene: KMT2D.
Holoprosencephaly v2.27 RAD21 Ivone Leong Tag Q3_21_rating was removed from gene: RAD21.
Holoprosencephaly v2.27 RAD21 Sarah Leigh commented on gene: RAD21
Holoprosencephaly v2.27 KMT2D Sarah Leigh commented on gene: KMT2D
Holoprosencephaly v2.26 RAD21 Ivone Leong Source Expert Review Green was added to RAD21.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Holoprosencephaly v2.26 KMT2D Ivone Leong Source Expert Review Green was added to KMT2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.130 SLC25A15 Ivone Leong Tag Q3_21_rating was removed from gene: SLC25A15.
Hereditary spastic paraplegia - childhood onset v2.130 RNASEH2B Ivone Leong Tag Q4_21_rating was removed from gene: RNASEH2B.
Hereditary spastic paraplegia - childhood onset v2.130 MAPK8IP3 Ivone Leong Tag Q4_21_rating was removed from gene: MAPK8IP3.
Hereditary spastic paraplegia - childhood onset v2.130 IFIH1 Ivone Leong Tag Q4_21_rating was removed from gene: IFIH1.
Hereditary spastic paraplegia - childhood onset v2.130 HPDL Ivone Leong Tag Q2_21_rating was removed from gene: HPDL.
Tag Q2_21_NHS_review was removed from gene: HPDL.
Hereditary spastic paraplegia - childhood onset v2.130 HIKESHI Ivone Leong Tag Q2_21_rating was removed from gene: HIKESHI.
Hereditary spastic paraplegia - childhood onset v2.130 GPT2 Ivone Leong Tag Q4_21_rating was removed from gene: GPT2.
Hereditary spastic paraplegia - childhood onset v2.130 GLRX5 Ivone Leong Tag Q2_21_rating was removed from gene: GLRX5.
Hereditary spastic paraplegia - childhood onset v2.130 GJA1 Ivone Leong Tag Q3_21_rating was removed from gene: GJA1.
Hereditary spastic paraplegia - childhood onset v2.130 GALC Ivone Leong Tag Q3_21_rating was removed from gene: GALC.
Hereditary spastic paraplegia - childhood onset v2.130 FAR1 Ivone Leong Tag Q2_21_rating was removed from gene: FAR1.
Hereditary spastic paraplegia - childhood onset v2.130 ELOVL1 Ivone Leong Tag Q4_21_rating was removed from gene: ELOVL1.
Hereditary spastic paraplegia - childhood onset v2.130 BCAS3 Ivone Leong Tag Q2_21_rating was removed from gene: BCAS3.
Hereditary spastic paraplegia - childhood onset v2.130 ARL6IP1 Ivone Leong Tag Q2_21_rating was removed from gene: ARL6IP1.
Hereditary spastic paraplegia - childhood onset v2.130 ALDH3A2 Ivone Leong Tag Q3_21_rating was removed from gene: ALDH3A2.
Hereditary spastic paraplegia - childhood onset v2.130 AFG3L2 Ivone Leong Tag Q2_21_MOI was removed from gene: AFG3L2.
Hereditary spastic paraplegia - childhood onset v2.130 SLC25A15 Sarah Leigh commented on gene: SLC25A15
Hereditary spastic paraplegia - childhood onset v2.130 RNASEH2B Sarah Leigh commented on gene: RNASEH2B
Hereditary spastic paraplegia - childhood onset v2.130 MAPK8IP3 Sarah Leigh commented on gene: MAPK8IP3
Hereditary spastic paraplegia - childhood onset v2.130 IFIH1 Sarah Leigh commented on gene: IFIH1
Hereditary spastic paraplegia - childhood onset v2.130 HPDL Sarah Leigh commented on gene: HPDL: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Hereditary spastic paraplegia - childhood onset v2.130 HPDL Sarah Leigh commented on gene: HPDL: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Hereditary spastic paraplegia - childhood onset v2.130 HPDL Sarah Leigh commented on gene: HPDL
Hereditary spastic paraplegia - childhood onset v2.130 HIKESHI Sarah Leigh commented on gene: HIKESHI
Hereditary spastic paraplegia - childhood onset v2.130 GPT2 Sarah Leigh commented on gene: GPT2
Hereditary spastic paraplegia - childhood onset v2.130 GLRX5 Sarah Leigh commented on gene: GLRX5
Hereditary spastic paraplegia - childhood onset v2.130 GJA1 Sarah Leigh commented on gene: GJA1
Hereditary spastic paraplegia - childhood onset v2.130 GALC Sarah Leigh commented on gene: GALC
Hereditary spastic paraplegia - childhood onset v2.130 FAR1 Sarah Leigh commented on gene: FAR1
Hereditary spastic paraplegia - childhood onset v2.130 ELOVL1 Sarah Leigh commented on gene: ELOVL1
Hereditary spastic paraplegia - childhood onset v2.130 BCAS3 Sarah Leigh commented on gene: BCAS3
Hereditary spastic paraplegia - childhood onset v2.130 ARL6IP1 Sarah Leigh commented on gene: ARL6IP1
Hereditary spastic paraplegia - childhood onset v2.130 ALDH3A2 Sarah Leigh commented on gene: ALDH3A2
Hereditary spastic paraplegia - childhood onset v2.130 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary spastic paraplegia - childhood onset v2.129 SLC25A15 Ivone Leong Source Expert Review Green was added to SLC25A15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 RNASEH2B Ivone Leong Source Expert Review Green was added to RNASEH2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 MAPK8IP3 Ivone Leong Source Expert Review Green was added to MAPK8IP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 IFIH1 Ivone Leong Source Expert Review Green was added to IFIH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 HPDL Ivone Leong Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 HIKESHI Ivone Leong Source Expert Review Green was added to HIKESHI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 GPT2 Ivone Leong Source Expert Review Green was added to GPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 GLRX5 Ivone Leong Source Expert Review Green was added to GLRX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 GJA1 Ivone Leong Source Expert Review Green was added to GJA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 GALC Ivone Leong Source Expert Review Green was added to GALC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 FAR1 Ivone Leong Source Expert Review Green was added to FAR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 ELOVL1 Ivone Leong Source Expert Review Green was added to ELOVL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 BCAS3 Ivone Leong Source Expert Review Green was added to BCAS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 ARL6IP1 Ivone Leong Source Expert Review Green was added to ARL6IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 ALDH3A2 Ivone Leong Source Expert Review Green was added to ALDH3A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - childhood onset v2.129 AFG3L2 Ivone Leong Mode of inheritance for gene AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary spastic paraplegia - adult onset v1.95 WDR45B Ivone Leong Tag Q3_21_phenotype was removed from gene: WDR45B.
Hereditary spastic paraplegia - adult onset v1.95 UCHL1 Ivone Leong Tag Q2_21_expert_review was removed from gene: UCHL1.
Hereditary spastic paraplegia - adult onset v1.95 TFG Ivone Leong Tag Q3_21_phenotype was removed from gene: TFG.
Hereditary spastic paraplegia - adult onset v1.95 SPART Ivone Leong Tag Q3_21_phenotype was removed from gene: SPART.
Hereditary spastic paraplegia - adult onset v1.95 SLC1A4 Ivone Leong Tag Q2_21_phenotype was removed from gene: SLC1A4.
Hereditary spastic paraplegia - adult onset v1.95 SLC16A2 Ivone Leong Tag Q3_21_phenotype was removed from gene: SLC16A2.
Hereditary spastic paraplegia - adult onset v1.95 SERAC1 Ivone Leong Tag Q3_21_phenotype was removed from gene: SERAC1.
Hereditary spastic paraplegia - adult onset v1.95 REEP2 Ivone Leong Tag Q3_21_phenotype was removed from gene: REEP2.
Hereditary spastic paraplegia - adult onset v1.95 NT5C2 Ivone Leong Tag Q3_21_phenotype was removed from gene: NT5C2.
Hereditary spastic paraplegia - adult onset v1.95 NKX6-2 Ivone Leong Tag Q3_21_phenotype was removed from gene: NKX6-2.
Hereditary spastic paraplegia - adult onset v1.95 L1CAM Ivone Leong Tag Q3_21_phenotype was removed from gene: L1CAM.
Hereditary spastic paraplegia - adult onset v1.95 KIDINS220 Ivone Leong Tag Q3_21_phenotype was removed from gene: KIDINS220.
Hereditary spastic paraplegia - adult onset v1.95 KDM5C Ivone Leong Tag Q3_21_expert_review was removed from gene: KDM5C.
Tag Q3_21_phenotype was removed from gene: KDM5C.
Hereditary spastic paraplegia - adult onset v1.95 HACE1 Ivone Leong Tag Q3_21_phenotype was removed from gene: HACE1.
Hereditary spastic paraplegia - adult onset v1.95 SLC25A15 Ivone Leong Tag Q3_21_rating was removed from gene: SLC25A15.
Hereditary spastic paraplegia - adult onset v1.95 GJA1 Ivone Leong Tag Q3_21_rating was removed from gene: GJA1.
Hereditary spastic paraplegia - adult onset v1.95 GBE1 Ivone Leong Tag Q3_21_rating was removed from gene: GBE1.
Hereditary spastic paraplegia - adult onset v1.95 GALC Ivone Leong Tag Q3_21_rating was removed from gene: GALC.
Hereditary spastic paraplegia - adult onset v1.95 FBXO7 Ivone Leong Tag Q3_21_rating was removed from gene: FBXO7.
Hereditary spastic paraplegia - adult onset v1.95 FARS2 Ivone Leong Tag Q3_21_phenotype was removed from gene: FARS2.
Hereditary spastic paraplegia - adult onset v1.95 ERLIN1 Ivone Leong Tag Q3_21_phenotype was removed from gene: ERLIN1.
Hereditary spastic paraplegia - adult onset v1.95 ENTPD1 Ivone Leong Tag Q3_21_phenotype was removed from gene: ENTPD1.
Hereditary spastic paraplegia - adult onset v1.95 CYP2U1 Ivone Leong Tag Q2_21_expert_review was removed from gene: CYP2U1.
Hereditary spastic paraplegia - adult onset v1.95 CPT1C Ivone Leong Tag Q4_21_rating was removed from gene: CPT1C.
Hereditary spastic paraplegia - adult onset v1.95 C12orf65 Ivone Leong Tag Q3_21_expert_review was removed from gene: C12orf65.
Tag Q3_21_phenotype was removed from gene: C12orf65.
Hereditary spastic paraplegia - adult onset v1.95 ARG1 Ivone Leong Tag Q3_21_phenotype was removed from gene: ARG1.
Hereditary spastic paraplegia - adult onset v1.95 ALS2 Ivone Leong Tag Q3_21_expert_review was removed from gene: ALS2.
Tag Q3_21_phenotype was removed from gene: ALS2.
Hereditary spastic paraplegia - adult onset v1.95 AIMP1 Ivone Leong Tag Q3_21_phenotype was removed from gene: AIMP1.
Hereditary spastic paraplegia - adult onset v1.95 AFG3L2 Ivone Leong Tag Q2_21_phenotype was removed from gene: AFG3L2.
Tag Q2_21_MOI was removed from gene: AFG3L2.
Hereditary spastic paraplegia - adult onset v1.95 WDR45B Sarah Leigh commented on gene: WDR45B
Hereditary spastic paraplegia - adult onset v1.95 UCHL1 Sarah Leigh commented on gene: UCHL1
Hereditary spastic paraplegia - adult onset v1.95 TFG Sarah Leigh commented on gene: TFG
Hereditary spastic paraplegia - adult onset v1.95 SPART Sarah Leigh commented on gene: SPART
Hereditary spastic paraplegia - adult onset v1.95 SLC25A15 Sarah Leigh commented on gene: SLC25A15
Hereditary spastic paraplegia - adult onset v1.95 SLC1A4 Sarah Leigh commented on gene: SLC1A4
Hereditary spastic paraplegia - adult onset v1.95 SLC16A2 Sarah Leigh commented on gene: SLC16A2
Hereditary spastic paraplegia - adult onset v1.95 SERAC1 Sarah Leigh commented on gene: SERAC1
Hereditary spastic paraplegia - adult onset v1.95 REEP2 Sarah Leigh commented on gene: REEP2
Hereditary spastic paraplegia - adult onset v1.95 NT5C2 Sarah Leigh commented on gene: NT5C2
Hereditary spastic paraplegia - adult onset v1.95 NKX6-2 Sarah Leigh commented on gene: NKX6-2
Hereditary spastic paraplegia - adult onset v1.95 L1CAM Sarah Leigh commented on gene: L1CAM
Hereditary spastic paraplegia - adult onset v1.95 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Hereditary spastic paraplegia - adult onset v1.95 KDM5C Sarah Leigh commented on gene: KDM5C
Hereditary spastic paraplegia - adult onset v1.95 HACE1 Sarah Leigh commented on gene: HACE1
Hereditary spastic paraplegia - adult onset v1.95 GJA1 Sarah Leigh commented on gene: GJA1
Hereditary spastic paraplegia - adult onset v1.95 GBE1 Sarah Leigh commented on gene: GBE1
Hereditary spastic paraplegia - adult onset v1.95 GALC Sarah Leigh commented on gene: GALC
Hereditary spastic paraplegia - adult onset v1.95 FBXO7 Sarah Leigh commented on gene: FBXO7
Hereditary spastic paraplegia - adult onset v1.95 FARS2 Sarah Leigh commented on gene: FARS2
Hereditary spastic paraplegia - adult onset v1.95 ERLIN1 Sarah Leigh commented on gene: ERLIN1
Hereditary spastic paraplegia - adult onset v1.95 ENTPD1 Sarah Leigh commented on gene: ENTPD1
Hereditary spastic paraplegia - adult onset v1.95 CYP2U1 Sarah Leigh commented on gene: CYP2U1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary spastic paraplegia - adult onset v1.95 CPT1C Sarah Leigh commented on gene: CPT1C
Hereditary spastic paraplegia - adult onset v1.95 C12orf65 Sarah Leigh commented on gene: C12orf65
Hereditary spastic paraplegia - adult onset v1.95 ARG1 Sarah Leigh commented on gene: ARG1
Hereditary spastic paraplegia - adult onset v1.95 ALS2 Sarah Leigh commented on gene: ALS2
Hereditary spastic paraplegia - adult onset v1.95 AIMP1 Sarah Leigh commented on gene: AIMP1
Hereditary spastic paraplegia - adult onset v1.95 AFG3L2 Sarah Leigh commented on gene: AFG3L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary spastic paraplegia - adult onset v1.94 WDR45B Ivone Leong Source Expert Review Amber was added to WDR45B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 UCHL1 Ivone Leong Source Expert Review Amber was added to UCHL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 TFG Ivone Leong Source Expert Review Amber was added to TFG.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 SPART Ivone Leong Source Expert Review Amber was added to SPART.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 SLC25A15 Ivone Leong Source Expert Review Green was added to SLC25A15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v1.94 SLC1A4 Ivone Leong Source Expert Review Amber was added to SLC1A4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 SLC16A2 Ivone Leong Source Expert Review Amber was added to SLC16A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 SERAC1 Ivone Leong Source Expert Review Amber was added to SERAC1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 REEP2 Ivone Leong Source Expert Review Amber was added to REEP2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 NT5C2 Ivone Leong Source Expert Review Amber was added to NT5C2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 NKX6-2 Ivone Leong Source Expert Review Amber was added to NKX6-2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 L1CAM Ivone Leong Source Expert Review Amber was added to L1CAM.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 KIDINS220 Ivone Leong Source Expert Review Amber was added to KIDINS220.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 KDM5C Ivone Leong Source Expert Review Amber was added to KDM5C.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 HACE1 Ivone Leong Source Expert Review Amber was added to HACE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 GJA1 Ivone Leong Source Expert Review Green was added to GJA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v1.94 GBE1 Ivone Leong Source Expert Review Green was added to GBE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v1.94 GALC Ivone Leong Source Expert Review Green was added to GALC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v1.94 FBXO7 Ivone Leong Source Expert Review Green was added to FBXO7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v1.94 FARS2 Ivone Leong Source Expert Review Amber was added to FARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 ERLIN1 Ivone Leong Source Expert Review Amber was added to ERLIN1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 ENTPD1 Ivone Leong Source Expert Review Amber was added to ENTPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 CYP2U1 Ivone Leong Source Expert Review Amber was added to CYP2U1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 CPT1C Ivone Leong Source Expert Review Green was added to CPT1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary spastic paraplegia - adult onset v1.94 C12orf65 Ivone Leong Source Expert Review Amber was added to C12orf65.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 ARG1 Ivone Leong Source Expert Review Amber was added to ARG1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 ALS2 Ivone Leong Source Expert Review Amber was added to ALS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 AIMP1 Ivone Leong Source Expert Review Amber was added to AIMP1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary spastic paraplegia - adult onset v1.94 AFG3L2 Ivone Leong Source Expert Review Amber was added to AFG3L2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary neuropathy NOT PMP22 copy number v1.88 VWA1 Ivone Leong Tag Q3_21_rating was removed from gene: VWA1.
Tag Q3_21_NHS_review was removed from gene: VWA1.
Hereditary neuropathy NOT PMP22 copy number v1.88 POLR3B Ivone Leong Tag Q2_21_rating was removed from gene: POLR3B.
Hereditary neuropathy NOT PMP22 copy number v1.88 PIGB Ivone Leong Tag Q3_21_rating was removed from gene: PIGB.
Hereditary neuropathy NOT PMP22 copy number v1.88 HEXB Ivone Leong Tag Q4_21_rating was removed from gene: HEXB.
Hereditary neuropathy NOT PMP22 copy number v1.88 HEXA Ivone Leong Tag Q4_21_rating was removed from gene: HEXA.
Hereditary neuropathy NOT PMP22 copy number v1.88 MME Ivone Leong Tag Q4_21_expert_review was removed from gene: MME.
Tag Q4_21_MOI was removed from gene: MME.
Tag Q4_21_NHS_review was removed from gene: MME.
Hereditary neuropathy NOT PMP22 copy number v1.88 GSN Ivone Leong Tag Q3_21_rating was removed from gene: GSN.
Hereditary neuropathy NOT PMP22 copy number v1.88 C1orf194 Ivone Leong Tag Q3_21_rating was removed from gene: C1orf194.
Tag Q3_21_NHS_review was removed from gene: C1orf194.
Hereditary neuropathy NOT PMP22 copy number v1.88 VWA1 Sarah Leigh commented on gene: VWA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary neuropathy NOT PMP22 copy number v1.88 POLR3B Sarah Leigh commented on gene: POLR3B
Hereditary neuropathy NOT PMP22 copy number v1.88 PIGB Sarah Leigh commented on gene: PIGB
Hereditary neuropathy NOT PMP22 copy number v1.88 MME Sarah Leigh commented on gene: MME
Hereditary neuropathy NOT PMP22 copy number v1.88 HEXB Sarah Leigh commented on gene: HEXB
Hereditary neuropathy NOT PMP22 copy number v1.88 HEXA Sarah Leigh commented on gene: HEXA
Hereditary neuropathy NOT PMP22 copy number v1.88 GSN Sarah Leigh commented on gene: GSN
Hereditary neuropathy NOT PMP22 copy number v1.88 C1orf194 Sarah Leigh commented on gene: C1orf194: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary neuropathy NOT PMP22 copy number v1.87 VWA1 Ivone Leong Source Expert Review Green was added to VWA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy NOT PMP22 copy number v1.87 POLR3B Ivone Leong Source Expert Review Green was added to POLR3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy NOT PMP22 copy number v1.87 PIGB Ivone Leong Source Expert Review Green was added to PIGB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy NOT PMP22 copy number v1.87 MME Ivone Leong Mode of inheritance for gene MME was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy NOT PMP22 copy number v1.87 HEXB Ivone Leong Source Expert Review Green was added to HEXB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy NOT PMP22 copy number v1.87 HEXA Ivone Leong Source Expert Review Green was added to HEXA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy NOT PMP22 copy number v1.87 GSN Ivone Leong Source Expert Review Green was added to GSN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy NOT PMP22 copy number v1.87 C1orf194 Ivone Leong Source Expert Review Green was added to C1orf194.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia or chorea or related movement disorder v1.217 VPS41 Sarah Leigh commented on gene: VPS41: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 VPS16 Sarah Leigh commented on gene: VPS16: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 UBTF Sarah Leigh commented on gene: UBTF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 TARS2 Sarah Leigh commented on gene: TARS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 SLC16A2 Sarah Leigh commented on gene: SLC16A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 SCN1A Sarah Leigh commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 MED27 Sarah Leigh commented on gene: MED27: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 IRF2BPL Sarah Leigh commented on gene: IRF2BPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 IMPDH2 Sarah Leigh commented on gene: IMPDH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 HPRT1 Sarah Leigh commented on gene: HPRT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 GRIN1 Sarah Leigh commented on gene: GRIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 GNB1 Sarah Leigh commented on gene: GNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 GLRB Sarah Leigh commented on gene: GLRB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 FUCA1 Sarah Leigh commented on gene: FUCA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 FOXG1 Sarah Leigh commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 FITM2 Sarah Leigh commented on gene: FITM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 DHDDS Sarah Leigh commented on gene: DHDDS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 CSTB Sarah Leigh commented on gene: CSTB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 CLPB Sarah Leigh commented on gene: CLPB: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 CAMK4 Sarah Leigh commented on gene: CAMK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 C9orf72 Sarah Leigh commented on gene: C9orf72: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia or chorea or related movement disorder v1.217 ALDH18A1 Sarah Leigh commented on gene: ALDH18A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Dilated Cardiomyopathy and conduction defects v1.75 LDB3 Matthew Edwards reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 4662268, PMID: 14660611, PMID: 16427346; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC (OMIM #601493); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic epilepsy syndromes v2.498 CPSF3 Konstantinos Varvagiannis gene: CPSF3 was added
gene: CPSF3 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to Failure to thrive; Abnormal muscle tone; Global developmental delay; Intellectual disability; Microcephaly; Seizures
Penetrance for gene: CPSF3 were set to Complete
Review for gene: CPSF3 was set to AMBER
Added comment: Arnadottir (2022 - PMID: 35121750) describe the phenotype associated with biallelic CPSF3 pathogenic variants.

Based on WGS of 56,969 Icelanders and imputing the genotype of another 153,054 chip-genotyped Icelanders, the authors identified missense variants with a deficit of homozygous carriers to what would be expected based on AF. (For variants with MAF>0.4%, for which >=3 hmz carriers would be expected by H-W equilibrium, no identified hmz carriers within this cohort/dataset). A total of 114 such missense variants was identified.

5 of these SNVs, among which a CPSF3 one (NM_016207.3:c.1403G>A / p.Gly468Glu), were however observed in a series of 764 individuals investigated with clinical WGS at the National University Hospital.

The CPSF3 variant with a MAF of 0.41% (3 hmz expected but none observed in the population set) was found in homozygosity in 2 closely related individuals, both investigated for FTT, severe DD, ID, microcephaly, seizures but remaining unresolved following WGS with no other candidate variants.

Using genealogical information from the db of deCODE genetics, the authors identified 3 couples from the 153k genotyped Icelanders where both partners were htz carriers for this SNV. These 3 couples had 10 offspring, 4 of whom deceased but with the same phenotypic features as above (hypotonia 4/4, ID 4/4, seizures 3/4, microcephaly 2/4). Paraffin embedded samples of 2 of these children and WG & Sanger sequencing confirmed hmz for Gly468Glu in 2 sibs, without other candidate variants. Samples of the 2 other individuals were N/A.

Through GeneMatcher 2 additional first-cousin patients from Mexico were identified, being hmz for another CPSF3 variant (c.1061T>C/p.Ile354Thr) and having overlapping phenotype of abnormal muscle tone, ID, seizures and microcephaly. There were no other variants in WES analysis.

mRNA studies in WBCs from Gly468Glu htz carriers did not reveal reduced levels and W.Blot of lymphocytes from a hmz individual confirmed expression, overall suggesting that the variant does not affect the protein levels but presumably the function.

CPSF3 encodes cleavage and polyadenylation specificity factor 3, a 684 aa protein, subunit of the cleavage and polyadenylation specificity factor compex. As discussed, cleavage and polyadenylation of the 3' of pre-mRNAs is necessary before transport out of the nucleus with CPSF playing a crucial role in the process of cleavage.

CPSF3 ko mice exhibit embryonic lethality, while in yeast mutations in key residues of the CPSF3 homolog are lethal.

In gnomAD, CPSF3 has a pLI of 0, z-score of 3.61 with no homozygotes for pLoF variants in 141k individuals (or ~57k WGS Icelanders).

The 2 missense variants concern highly conserved residues (GERP ~5.8). Both are hypothesized to affect the ability of the protein to bind other factors involved in pre-mRNA cleavage.

Overall the authors speculate that not only complete loss of CPSF3 would result in drastic phenotypic effects - as in the murine model - but also variants altering its enzymatic function.

There is currently no CPSF3-related phenotype in OMIM, G2P, SysID, The gene is included with green rating in the ID, epilepsy and microcephaly panels in PanelApp Australia.

Consider inclusion probably with amber rating (Highly consistent phenotype, biological function, evidence from animal models. 2 identified variants, authors state that follow-up functional studies are needed). Also consider inclusion in other possibly relevant panels.
Sources: Literature
Intellectual disability v3.1518 CPSF3 Konstantinos Varvagiannis gene: CPSF3 was added
gene: CPSF3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to Failure to thrive; Abnormal muscle tone; Global developmental delay; Intellectual disability; Microcephaly; Seizures
Penetrance for gene: CPSF3 were set to Complete
Review for gene: CPSF3 was set to AMBER
Added comment: Arnadottir (2022 - PMID: 35121750) describe the phenotype associated with biallelic CPSF3 pathogenic variants.

Based on WGS of 56,969 Icelanders and imputing the genotype of another 153,054 chip-genotyped Icelanders, the authors identified missense variants with a deficit of homozygous carriers to what would be expected based on AF. (For variants with MAF>0.4%, for which >=3 hmz carriers would be expected by H-W equilibrium, no identified hmz carriers within this cohort/dataset). A total of 114 such missense variants was identified.

5 of these SNVs, among which a CPSF3 one (NM_016207.3:c.1403G>A / p.Gly468Glu), were however observed in a series of 764 individuals investigated with clinical WGS at the National University Hospital.

The CPSF3 variant with a MAF of 0.41% (3 hmz expected but none observed in the population set) was found in homozygosity in 2 closely related individuals, both investigated for FTT, severe DD, ID, microcephaly, seizures but remaining unresolved following WGS with no other candidate variants.

Using genealogical information from the db of deCODE genetics, the authors identified 3 couples from the 153k genotyped Icelanders where both partners were htz carriers for this SNV. These 3 couples had 10 offspring, 4 of whom deceased but with the same phenotypic features as above (hypotonia 4/4, ID 4/4, seizures 3/4, microcephaly 2/4). Paraffin embedded samples of 2 of these children and WG & Sanger sequencing confirmed hmz for Gly468Glu in 2 sibs, without other candidate variants. Samples of the 2 other individuals were N/A.

Through GeneMatcher 2 additional first-cousin patients from Mexico were identified, being hmz for another CPSF3 variant (c.1061T>C/p.Ile354Thr) and having overlapping phenotype of abnormal muscle tone, ID, seizures and microcephaly. There were no other variants in WES analysis.

mRNA studies in WBCs from Gly468Glu htz carriers did not reveal reduced levels and W.Blot of lymphocytes from a hmz individual confirmed expression, overall suggesting that the variant does not affect the protein levels but presumably the function.

CPSF3 encodes cleavage and polyadenylation specificity factor 3, a 684 aa protein, subunit of the cleavage and polyadenylation specificity factor compex. As discussed, cleavage and polyadenylation of the 3' of pre-mRNAs is necessary before transport out of the nucleus with CPSF playing a crucial role in the process of cleavage.

CPSF3 ko mice exhibit embryonic lethality, while in yeast mutations in key residues of the CPSF3 homolog are lethal.

In gnomAD, CPSF3 has a pLI of 0, z-score of 3.61 with no homozygotes for pLoF variants in 141k individuals (or ~57k WGS Icelanders).

The 2 missense variants concerned highly conserved residues (GERP ~5.8). Both are hypothesized to affect the ability of the protein to bind other factors involved in pre-mRNA cleavage.

Overall the authors speculate that not only complete loss of CPSF3 would result in drastic phenotypic effects - as in the murine model - but also variants altering its enzymatic function.

There is currently no CPSF3-related phenotype in OMIM, G2P, SysID, The gene is included with green rating in the ID, epilepsy and microcephaly panels in PanelApp Australia.

Consider inclusion probably with amber rating (Highly consistent phenotype, biological function, evidence from animal models. 2 identified variants, authors state that follow-up functional studies are needed). Also consider inclusion in other possibly relevant panels.
Sources: Literature
Intellectual disability v3.1518 NRCAM Konstantinos Varvagiannis gene: NRCAM was added
gene: NRCAM was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to 35108495
Phenotypes for gene: NRCAM were set to Hypotonia; Hypertonia; Spasticity; Global developmental delay; Intellectual disability; Microcephaly; Behavioral abnormality; Neuropathy; Hearing abnormality; Abnormality of the eye; Abnormality of the skeletal system; Scoliosis; Abnormality of the face
Penetrance for gene: NRCAM were set to Complete
Review for gene: NRCAM was set to GREEN
Added comment: Kurolap et al (2022 - PMID: 35108495) describe the phenotype of 10 individuals (from 8 families) with biallelic variants in NRCAM.

Features included tone abnormalities (hypotonia in 4/10, hypertonia/spasticity in 4/10), DD (8/10 - 7 families) and cognitive impairment (in 7/10 - 6 fam), neuropathy (4/10 - incl. 2 sibs without DD/ID). Other phenotypes incl. FTT (2/8), microcephaly (3/6), variable behavioral issues (3/5), abnormalities from the eyes/vision (6/8 - cataract in 2), abnormal hearing (3/7) or skeletal findings (8/9 - incl. scoliosis in 5). Nonspecific facial features were reported in 5/8.

Previous metabolic, genetic (incl. karyotype or CMA, FMR1, testing for Steinert disease or SMA) or other work-up (e.g. muscle biopsy) is reported for several subjects but was normal/non-diagnostic.

All were investigated by WES/WGS which revealed biallelic NRCAM variants. Sanger sequencing was used for confirmation and segregation analyses, with compatible results in several affected/unaffected sibs tested. There were no alternative explanations for the NDD phenotype with the exception of one subject with a mosaic functionally characterized LP KRAS variant suspected to contribute to his phenotype.

NRCAM encodes neuronal cell adhesion molecule (CAM). CAMs are membrane bound proteins with important role in tissue morphogenesis and maintenance. They mediate interactions between neighboring cells or cells and the extracellular matrix. The L1 subgroup of immunoglobulin CAMS - consisting of L1CAM, neurofascin, NRCAM, CHL1 - is the most abundant in the CNS with several critical functions in CNS development, among others in neural cell differentiation, axonal growth and guidance, myelination, synapse formation. Pathogenic L1CAM (XL) and NFASC variants (AR) are associated with NDD.

Different missense (N=7), stopgain/frameshift (N=3), a splice variant (NM_001037132.2:c.2647-2A>G) as well as a deep intronic one (c.230+824G>C / rs575851831). Variants occurred in different domains with a cluster (42%) in the fibronectin III domain.

Missense SNVs were ultrarare or not present in gnomAD, occurred in conserved residues, with several in silico predictions in favor of a deleterious effect. Structural modelling suggested that all substitutions occurred at residues exposed to solvent and possible abrogated interaction with other proteins.

There were no expression studies performed at the mRNA/protein level. The splice variant is predicted to cause ex22 skipping leading to frameshift. The deep intronic variant is predicted to disrupt a site for spl. regulator SC35 and may cause activation of a cryptic acceptor site with inclusion of a cryptic exon.

The zebrafish nrcama gene is the sole ortholog of human NRCAM, with another gene proposed as possible ortholog (nrcamb) mapping upon BLAST analysis to cntn1a. The authors performed CRISPR-Cas9 mutagenesis in zebrafish introducing a partial deletion of ex18 and 19. Mutant zebrafish were viable, displayed altered axonal projections and abnormal swimming behavior (increased movement in darkness).

Currently, there is no NRCAM-associated phenotype in OMIM/G2P/SysID. PanelApp Australia includes NRCAM in its ID panel with green rating.

Consider inclusion probably with green (>3 individuals/families/variants, segregation, gene in the L1-Ig CAM family causing NDD, zebrafish model) or amber rating (ID not a universal feature, variant effect not studied).
Sources: Literature
Genetic epilepsy syndromes v2.498 TIAM1 Konstantinos Varvagiannis gene: TIAM1 was added
gene: TIAM1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: TIAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIAM1 were set to 35240055; 33328293
Phenotypes for gene: TIAM1 were set to Delayed speech and language development; Global developmental delay; Intellectual disability; Seizures; Behavioral abnormality; Abnormality of the endocrine system; Hypothyroidism; Abnormality of nervous system morphology
Penetrance for gene: TIAM1 were set to Complete
Review for gene: TIAM1 was set to AMBER
Added comment: Lu et al (2022 - PMID: 35240055) describe 5 individuals (from 4 families) with biallelic TIAM1 missense variants.

The phenotype overall corresponded to a neurodevelopmental disorder with DD (5/5), ID (4/4 individuals of relevant age - 3 families), speech delay (5/5), seizures (5/5 - onset: 2m-13y) and behavioral abnormalities (2/2, sibs with autism and ADHD). Several subjects had endocrine symptoms, namely hypothyroidism (N=3 - 2 families), Addison's disease (1) or hypomagnesemia (1). Non-consistent abnormalities were reported in (3/3) subjects who had a brain MRI.

Previous investigations were mentioned for 3 individuals (incl. 2 sibs) and included normal CMA and/or metabolic workup.

Singleton or trio exome sequencing (in one family) revealed biallelic missense TIAM1 variants.

6 different missense variants were reported, all ultra-rare or not present in gnomAD (also o/e:0.2, pLI:0.96), with CADD scores in favor of deleterious effect (NM_001353694.2): c.67C>T/p.Arg23Cys*, c.2584C>T/p.Leu862Phe*, c.983G>T/p.Gly328Val*, c.4640C>A/p.Ala1547Glu, c.1144G>C/p.Gly382Arg, c.4016C>T/p.Ala1339Val.

TIAM1 encodes a RAC1-specific guanine exchange factor (GEF), regulating RAC1 signaling pathways that in turn affect cell shape, migration, adhesion, growth, survival, and polarity, and influence actin cytoskeletal organization, endocytosis, and membrane trafficking. RAC1 signaling plays important role in control of neuronal morphogenesis and neurite outgrowth (based on the summary by Entrez and authors).

TIAM1 is highly expressed in human brain (GTEx).

The authors provide evidence that sif, the Drosophila ortholog, is expressed primarily in neurons of the fly CNS (but not in glia). Using different sif LoF mutant flies they demonstrate that loss of sif impairs viability. Surviving flies exhibited climbing defects and seizure-like behaviors, both significantly rescued upon UAS-sif expression. Neuronal specific sif knockdown resulted in similar phenotypes to ubiquitous knockdown, while glial knockdown did not result in climbing defects.

The semi-lethal phenotype could be fully rescued by expression of the fly sif cDNA, but only partially by human TIAM1 cDNA reference. Upon expression, 3 patient-variants (R23C, L862F, G328V) had variable rescue abilities similar to or lower (R23C) than TIAM1 Ref. TIAM1 Ref and variants could not rescue the neurological phenotypes though. Higher/ectopic expression of sif or TIAM1 Ref was toxic, which was also observed to a lesser extent for variants.

Overall, the evidence provided suggests that the 3 variants tested induce partial LoF.

In a recent study cited (PMID: 33328293), Tiam1 KO mice had simplified dendritic arbors, reduced spine density and diminished excitatory transmission in dentate gyrus. The authors comment that this mouse model presented only subtle behavioral abnormalities which they speculate may be secondary to GEF redundancy (eg. Tiam2).

There is no TIAM1-associated phenotype in OMIM/G2P/SysID. TIAM1 is included in PanelApp Australia in the ID and epilepsy panels with green rating.

Consider inclusion in the current panel with amber rating [As authors discuss: some phenotypic features differed in their small cohort and the contribution of other recessive conditions in 2 consanguineous families cannot be excluded. Also: in fig S1 only status of parents but not of affected/unaffected sibs is specified with the exception of Fam1].
Sources: Literature
Intellectual disability v3.1518 TIAM1 Konstantinos Varvagiannis gene: TIAM1 was added
gene: TIAM1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: TIAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIAM1 were set to 35240055; 33328293
Phenotypes for gene: TIAM1 were set to Delayed speech and language development; Global developmental delay; Intellectual disability; Seizures; Behavioral abnormality; Abnormality of the endocrine system; Hypothyroidism; Abnormality of nervous system morphology
Penetrance for gene: TIAM1 were set to Complete
Review for gene: TIAM1 was set to AMBER
Added comment: Lu et al (2022 - PMID: 35240055) describe 5 individuals (from 4 families) with biallelic TIAM1 missense variants.

The phenotype overall corresponded to a neurodevelopmental disorder with DD (5/5), ID (4/4 individuals of relevant age - 3 families), speech delay (5/5), seizures (5/5 - onset: 2m-13y) and behavioral abnormalities (2/2, sibs with autism and ADHD). Several subjects had endocrine symptoms, namely hypothyroidism (N=3 - 2 families), Addison's disease (1) or hypomagnesemia (1). Non-consistent abnormalities were reported in (3/3) subjects who had a brain MRI.

Previous investigations were mentioned for 3 individuals (incl. 2 sibs) and included normal CMA and/or metabolic workup.

Singleton or trio exome sequencing (in one family) revealed biallelic missense TIAM1 variants.

6 different missense variants were reported, all ultra-rare or not present in gnomAD (also o/e:0.2, pLI:0.96), with CADD scores in favor of deleterious effect (NM_001353694.2): c.67C>T/p.Arg23Cys*, c.2584C>T/p.Leu862Phe*, c.983G>T/p.Gly328Val*, c.4640C>A/p.Ala1547Glu, c.1144G>C/p.Gly382Arg, c.4016C>T/p.Ala1339Val.

TIAM1 encodes a RAC1-specific guanine exchange factor (GEF), regulating RAC1 signaling pathways that in turn affect cell shape, migration, adhesion, growth, survival, and polarity, and influence actin cytoskeletal organization, endocytosis, and membrane trafficking. RAC1 signaling plays important role in control of neuronal morphogenesis and neurite outgrowth (based on the summary by Entrez and authors).

TIAM1 is highly expressed in human brain (GTEx).

The authors provide evidence that sif, the Drosophila ortholog, is expressed primarily in neurons of the fly CNS (but not in glia). Using different sif LoF mutant flies they demonstrate that loss of sif impairs viability. Surviving flies exhibited climbing defects and seizure-like behaviors, both significantly rescued upon UAS-sif expression. Neuronal specific sif knockdown resulted in similar phenotypes to ubiquitous knockdown, while glial knockdown did not result in climbing defects.

The semi-lethal phenotype could be fully rescued by expression of the fly sif cDNA, but only partially by human TIAM1 cDNA reference. Upon expression, 3 patient-variants (R23C, L862F, G328V) had variable rescue abilities similar to or lower (R23C) than TIAM1 Ref. TIAM1 Ref and variants could not rescue the neurological phenotypes though. Higher/ectopic expression of sif or TIAM1 Ref was toxic, which was also observed to a lesser extent for variants.

Overall, the evidence provided suggests that the 3 variants tested induce partial LoF.

In a recent study cited (PMID: 33328293), Tiam1 KO mice had simplified dendritic arbors, reduced spine density and diminished excitatory transmission in dentate gyrus. The authors comment that this mouse model presented only subtle behavioral abnormalities which they speculate may be secondary to GEF redundancy (eg. Tiam2).

There is no TIAM1-associated phenotype in OMIM/G2P/SysID. TIAM1 is included in PanelApp Australia in the ID and epilepsy panels with green rating.

Consider inclusion in the current panel with amber rating [As authors discuss: some phenotypic features differed in their small cohort and the contribution of other recessive conditions in 2 consanguineous families cannot be excluded. Also: in fig S1 only status of parents but not of affected/unaffected sibs is specified with the exception of Fam1].
Sources: Literature
Intellectual disability v3.1518 THUMPD1 Konstantinos Varvagiannis reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237576, 35196516; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Hearing abnormality, Abnormality of the eye, Febrile seizures, Behavioral abnormality, Abnormality of brain morphology, Abnormality of the face; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic epilepsy syndromes v2.498 GABRD Ivone Leong Tag Q4_21_rating was removed from gene: GABRD.
Tag Q4_21_NHS_review was removed from gene: GABRD.
Genetic epilepsy syndromes v2.498 HPDL Ivone Leong Tag Q2_21_rating was removed from gene: HPDL.
Genetic epilepsy syndromes v2.498 UFSP2 Ivone Leong Tag Q2_21_rating was removed from gene: UFSP2.
Tag Q2_21_expert_review was removed from gene: UFSP2.
Tag Q2_21_NHS_review was removed from gene: UFSP2.
Genetic epilepsy syndromes v2.498 UFSP2 Sarah Leigh commented on gene: UFSP2: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Genetic epilepsy syndromes v2.498 HPDL Sarah Leigh commented on gene: HPDL
Genetic epilepsy syndromes v2.498 GABRD Sarah Leigh commented on gene: GABRD: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Genetic epilepsy syndromes v2.498 UFSP2 Ivone Leong Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Genetic epilepsy syndromes v2.498 HPDL Ivone Leong Source Expert Review Green was added to HPDL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Genetic epilepsy syndromes v2.498 GABRD Ivone Leong Source Expert Review Green was added to GABRD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v2.288 VPS41 Ivone Leong Tag Q2_21_rating was removed from gene: VPS41.
Tag Q2_21_NHS_review was removed from gene: VPS41.
Ataxia and cerebellar anomalies - narrow panel v2.288 VPS41 Sarah Leigh commented on gene: VPS41
Ataxia and cerebellar anomalies - narrow panel v2.287 VPS41 Ivone Leong Source Expert Review Green was added to VPS41.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.154 EBP Ivone Leong Tag Q2_21_expert_review was removed from gene: EBP.
Arthrogryposis v3.154 ERBB3 Ivone Leong Tag Q2_21_rating was removed from gene: ERBB3.
Arthrogryposis v3.154 ERGIC1 Ivone Leong Tag Q3_21_rating was removed from gene: ERGIC1.
Arthrogryposis v3.154 FLNA Ivone Leong Tag Q3_21_rating was removed from gene: FLNA.
Arthrogryposis v3.154 KIDINS220 Ivone Leong Tag Q2_21_rating was removed from gene: KIDINS220.
Arthrogryposis v3.154 MED12 Ivone Leong Tag Q3_21_rating was removed from gene: MED12.
Arthrogryposis v3.154 MYLPF Ivone Leong Tag Q2_21_expert_review was removed from gene: MYLPF.
Arthrogryposis v3.154 SLC29A3 Ivone Leong Tag Q4_21_rating was removed from gene: SLC29A3.
Tag Q4_21_NHS_review was removed from gene: SLC29A3.
Arthrogryposis v3.154 SLC6A9 Ivone Leong Tag Q4_21_rating was removed from gene: SLC6A9.
Tag Q4_21_NHS_review was removed from gene: SLC6A9.
Arthrogryposis v3.154 SYNE1 Ivone Leong Tag Q2_21_rating was removed from gene: SYNE1.
Arthrogryposis v3.154 MYL1 Ivone Leong Tag Q2_21_rating was removed from gene: MYL1.
Arthrogryposis v3.154 FBN2 Ivone Leong Tag Q2_21_MOI was removed from gene: FBN2.
Arthrogryposis v3.154 SYNE1 Sarah Leigh commented on gene: SYNE1
Arthrogryposis v3.154 SLC6A9 Sarah Leigh commented on gene: SLC6A9
Arthrogryposis v3.154 SLC29A3 Sarah Leigh commented on gene: SLC29A3
Arthrogryposis v3.154 MYLPF Sarah Leigh commented on gene: MYLPF
Arthrogryposis v3.154 MYL1 Sarah Leigh commented on gene: MYL1
Arthrogryposis v3.154 MED12 Sarah Leigh commented on gene: MED12
Arthrogryposis v3.154 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Arthrogryposis v3.154 FLNA Sarah Leigh commented on gene: FLNA
Arthrogryposis v3.154 FBN2 Sarah Leigh commented on gene: FBN2: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Arthrogryposis v3.154 ERGIC1 Sarah Leigh commented on gene: ERGIC1
Arthrogryposis v3.154 ERBB3 Sarah Leigh commented on gene: ERBB3: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Arthrogryposis v3.154 EBP Sarah Leigh commented on gene: EBP
Arthrogryposis v3.153 SYNE1 Ivone Leong Source Expert Review Green was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 SLC6A9 Ivone Leong Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 SLC29A3 Ivone Leong Source Expert Review Green was added to SLC29A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 MYL1 Ivone Leong Source Expert Review Red was added to MYL1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Arthrogryposis v3.153 MED12 Ivone Leong Source Expert Review Green was added to MED12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 KIDINS220 Ivone Leong Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 FLNA Ivone Leong Source Expert Review Green was added to FLNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 FBN2 Ivone Leong Source NHS GMS was added to FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v3.153 ERGIC1 Ivone Leong Source Expert Review Green was added to ERGIC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 ERBB3 Ivone Leong Source Expert Review Green was added to ERBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arthrogryposis v3.153 EBP Ivone Leong Source Expert Review Green was added to EBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset movement disorder v1.166 PPP2R5D Ivone Leong Tag Q2_21_phenotype was removed from gene: PPP2R5D.
Adult onset movement disorder v1.166 VPS16 Ivone Leong Tag Q2_21_rating was removed from gene: VPS16.
Tag Q2_21_NHS_review was removed from gene: VPS16.
Adult onset movement disorder v1.166 VPS41 Ivone Leong Tag Q2_21_expert_review was removed from gene: VPS41.
Tag Q2_21_NHS_review was removed from gene: VPS41.
Adult onset movement disorder v1.166 VPS41 Sarah Leigh commented on gene: VPS41
Adult onset movement disorder v1.166 VPS16 Sarah Leigh commented on gene: VPS16
Adult onset movement disorder v1.166 PPP2R5D Sarah Leigh commented on gene: PPP2R5D: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval.
Adult onset movement disorder v1.165 VPS16 Ivone Leong Source Expert Review Green was added to VPS16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset movement disorder v1.165 PPP2R5D Ivone Leong Source Expert Review Green was added to PPP2R5D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v2.35 DZIP1L Yu Leng Phua Deleted their comment
Cystic kidney disease v2.35 DZIP1L Yu Leng Phua edited their review of gene: DZIP1L: Added comment: Four children from three consanguineous families presenting with polycystic kidney disease;
Variants: c.193 T > C; p.(Cys65Arg), and c.216C > G; p.(Cys72Trp);
Functional analyses of the c.216C > G; p.(Cys72Trp) variant indicated mislocalization of mutant DZIP1L;
NOTE: Lack of liver phenotype in these patients; Changed phenotypes to: # 617610 POLYCYSTIC KIDNEY DISEASE 5, PKD5
Cystic kidney disease v2.35 DZIP1L Yu Leng Phua reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 35211789; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1518 HEATR3 Konstantinos Varvagiannis gene: HEATR3 was added
gene: HEATR3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to 35213692
Phenotypes for gene: HEATR3 were set to Anemia; Thrombocytopenia; Growth delay; Short stature; Abnormality of the skeletal system; Abnormality of finger; Abnormality of the thumb; Intellectual disability; Obesity; Abnormality of the face
Penetrance for gene: HEATR3 were set to Complete
Review for gene: HEATR3 was set to AMBER
Added comment: O'Donohue et al (2022 - PMID: 35213692) describe the clinical features of 6 individuals (from 4 unrelated families) with biallelic pathogenic HEATR3 variants.

These included bone marrow failure (anemia/anemia and thrombocytopenia at presentation), short stature/growth retardation (4/6), facial features (5/6 - in some: straight eyebrows, d-s palpebral fissures, synophrys) and skeletal findings incl. disproportionately short fingers/thumb anomaly. ID was reported in 4/6 individuals from 3 families (all: mild ID | 2/6 without ID). The phenotype corresponded overall to a variant form Diamond-Blackfan anemia (DBA, disorder caused by variants in genes encoding for ribosomal proteins) with additional features.

The 1st family (2 affected sibs and parents) underwent WES, not diagnostic for DBA. Analysis suggested variants in HEATR3 (prioritized due to its potential role in ribosome biogenesis) and 4 additional genes as candidates. Collaboration in the European DBA consortium and national DBA consortia led to identification of additional families.

HEATR3 encodes Heat-repeat-containing protein 3 or symportin, a protein that co-imports uL5 (encoded by RPL11) and uL18 (RPL5) in the nucleus where they assemble with 5S rRNA to form 5S RNP. The 5S RNP complex incorporates with maturing large ribosomal subunits to form the central protuberance. When 5S RNP is not incorporated, it accumulates and associates with Hdm2 ubiquitin ligase, the later normally targeting p53 proteasomal degradation.

The following missense and splice variants were identified (NM_182922):
- c.1751G>Α/p.(Gly584Glu) hmz
- c.1337G>A/p.(Cys446Tyr) hmz
- c.399+1G>T in trans with c.719C>T/p.(Pro240Leu)
- c.400T>C/p.(Cys134Arg) hmz

Variants were confirmed with Sanger sequencing. They were dispersed across HEATR3 without clustering although they affect residues either in the ARM (38-320) or HEAT (415-675) repeat domains, at positions evolutionary conserved, with in silico predictions in favor of a deleterious effect. With the exception of Cys134Arg (AF:4.11x10-6/no hmz), all were absent from gnomAD.

Studies in yeast suggested that deletions in symportin gene (syo1) lead to a mild growth defect and accumulation of 40S subunits. Similarly, two yeast strains engineered to test for the effect of the p.Gly584Glu (yeast p.Gly522Glu/Ala) exhibited growth defect and ribosomal subunit imbalance, both restored by wt Syo1.

HA-tagged HEATR3 in HeLa cells suggested that the co-translational capture mechanism to chaperone uL18 (RPL5) is conserved in human cells but was not observed upon expression of the p.Cys446Tyr variant.

While HEATR3 transcription was not affected in LCLs from individuals hmz for Gly584Glu or Cys446Tyr, protein levels were barely detectable, suggesting destabilization of the protein.

While uL18 accumulates in cytoplasm and nucleus with expected enrichment in nucleolus, upon siRNA knockdown of HEATR3 in HeLa cells this enrichment was lost. Studies in fibroblasts (Gly584Glu) demonstrated reduced uL18 nuclear staining. Overall, HEATR3 was suggested to be important for nuclear import of uL18 (though not for uL5).

LCL studies demonstrated pre-rRNA processing defects in patient cells with accumulation of 32S and 12S pre-rRNAs, the former being reminiscent of accumulations observed in individuals with RPL5- and RPL11-related DBA. Expression of wt HEATR3 restored processing defects.

LCLs from affected individuals revealed loss of free 60S subunits (as in yeast) with expression of wt cDNA restoring Nl levels.

Western blots of LCLs demonstrated that the levels of uL5, uL18 and p53 were not affected (the latter also observed in RPL5-related DBA)

Studies of bone marrow smears from 2 affected individuals allowed to conclude in a strong defect in erythroid cell proliferation.

Currently, there is no HEATR3-associated phenotype in OMIM, PanelApp Australia, G2P or the SysID database.

Consider inclusion in the ID panel with amber (mild ID in >3 individuals/families/variants although not universal feature) or green rating. Also consider inclusion in other possibly relevant panels eg. for cytopenias/congenital anemias, short stature, etc.
Sources: Literature
Neurodegenerative disorders - adult onset v2.267 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Neurodegenerative disorders - adult onset v2.267 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.105 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.105 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.289 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.289 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.298 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Hereditary ataxia v1.298 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.76 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.104 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.104 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.288 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.288 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.297 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Hereditary ataxia v1.297 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.75 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.75 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.77 TBP_CAG Arina Puzriakova Classified STR: TBP_CAG as Green List (high evidence)
Brain channelopathy v1.77 TBP_CAG Arina Puzriakova Str: tbp_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.103 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.103 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.287 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.287 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.296 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary ataxia v1.296 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.295 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Hereditary ataxia v1.295 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.74 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.74 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.56 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.56 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.102 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.102 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Early onset dystonia v1.111 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dystonia v1.111 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Intellectual disability v3.1518 FMR1_CGG Arina Puzriakova Classified STR: FMR1_CGG as Green List (high evidence)
Intellectual disability v3.1518 FMR1_CGG Arina Puzriakova Str: fmr1_cgg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.73 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.73 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.286 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary spastic paraplegia v1.286 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary neuropathy v1.441 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary neuropathy v1.441 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Hereditary ataxia v1.294 FXN_GAA Arina Puzriakova Classified STR: FXN_GAA as Green List (high evidence)
Hereditary ataxia v1.294 FXN_GAA Arina Puzriakova Str: fxn_gaa has been classified as Green List (High Evidence).
Intellectual disability v3.1518 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Intellectual disability v3.1518 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Mitochondrial disorders v2.92 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Mitochondrial disorders v2.92 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.45 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Skeletal Muscle Channelopathies v1.45 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital muscular dystrophy v2.27 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital muscular dystrophy v2.27 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Hereditary ataxia v1.293 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Hereditary ataxia v1.293 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v2.497 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Genetic epilepsy syndromes v2.497 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Brain channelopathy v1.76 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Brain channelopathy v1.76 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.285 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.285 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.292 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary ataxia v1.292 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.75 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Brain channelopathy v1.75 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.101 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.101 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.72 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.72 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.55 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.55 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.284 ATXN7_CAG Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.284 ATXN7_CAG Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.291 ATXN7_CAG Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary ataxia v1.291 ATXN7_CAG Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.100 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.100 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.283 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.283 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.440 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary neuropathy v1.440 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.290 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary ataxia v1.290 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Early onset dystonia v1.110 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Early onset dystonia v1.110 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.99 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.99 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.282 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.282 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.439 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.439 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.289 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary ataxia v1.289 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dystonia v1.109 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Early onset dystonia v1.109 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.71 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.71 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.281 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary spastic paraplegia v1.281 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary neuropathy v1.438 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary neuropathy v1.438 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.288 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary ataxia v1.288 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.70 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.70 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.98 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.98 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.280 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.280 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.437 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary neuropathy v1.437 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.287 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary ataxia v1.287 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.69 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.69 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.97 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.97 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.286 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Hereditary ataxia v1.286 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v2.496 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Genetic epilepsy syndromes v2.496 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.68 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.68 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.74 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Brain channelopathy v1.74 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Distal myopathies v1.45 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Distal myopathies v1.45 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Congenital myopathy v2.78 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Congenital myopathy v2.78 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.54 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.54 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v2.264 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source Expert Review Removed was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to No List (delete)
Structural basal ganglia disorders v1.28 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Parkinson Disease and Complex Parkinsonism v1.94 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary spastic paraplegia - childhood onset v2.126 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Hereditary spastic paraplegia - adult onset v1.91 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary spastic paraplegia v1.277 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia - adult onset v2.145 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary ataxia v1.283 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Brain channelopathy v1.71 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Ataxia and cerebellar anomalies - narrow panel v2.284 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source NHS GMS was added to STR: HTT_CAG.
Adult onset movement disorder v1.162 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Paroxysmal central nervous system disorders v1.38 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Neurodegenerative disorders - adult onset v2.264 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Parkinson Disease and Complex Parkinsonism v1.94 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary spastic paraplegia - childhood onset v2.126 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Hereditary spastic paraplegia v1.277 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia or chorea or related movement disorder v1.213 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Brain channelopathy v1.71 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 TBP_CAG Arina Puzriakova Source NHS GMS was added to STR: TBP_CAG.
Neurodegenerative disorders - adult onset v2.264 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.
Parkinson Disease and Complex Parkinsonism v1.94 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 NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 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 NHS GMS was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia - childhood onset v2.126 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 NHS GMS was added to STR: PPP2R2B_CAG.
Hereditary spastic paraplegia - adult onset v1.91 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.
Hereditary spastic paraplegia v1.277 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 NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 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 NHS GMS was added to STR: PPP2R2B_CAG.
Hereditary ataxia - adult onset v2.145 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.
Hereditary ataxia v1.283 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 NHS GMS was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 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 NHS GMS was added to STR: PPP2R2B_CAG.
Adult onset movement disorder v1.162 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.
Hereditary neuropathy v1.434 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Hereditary ataxia v1.283 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Amyotrophic lateral sclerosis/motor neuron disease v1.51 NOP56_GGCCTG Arina Puzriakova Source NHS GMS was added to STR: NOP56_GGCCTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.264 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Parkinson Disease and Complex Parkinsonism v1.94 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source NHS GMS was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dystonia v1.106 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source NHS GMS was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source NHS GMS was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v1.162 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Neurodegenerative disorders - adult onset v2.264 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Mitochondrial disorders v2.89 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Intellectual disability v3.1515 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Hypertrophic cardiomyopathy - teen and adult v2.36 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Hereditary spastic paraplegia - childhood onset v2.126 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Hereditary spastic paraplegia v1.277 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.283 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Inborn errors of metabolism v2.226 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Childhood onset dystonia or chorea or related movement disorder v1.213 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Ataxia and cerebellar anomalies - narrow panel v2.284 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Primary ovarian insufficiency v1.65 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Intellectual disability v3.1515 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Hereditary ataxia - adult onset v2.145 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Hereditary ataxia v1.283 FMR1_CGG Arina Puzriakova Source NHS GMS was added to STR: FMR1_CGG.
Skeletal muscle channelopathy v1.37 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Paroxysmal central nervous system disorders v1.38 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Skeletal Muscle Channelopathies v1.42 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Mitochondrial disorders v2.89 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric motor neuronopathies v1.74 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Intellectual disability v3.1515 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Gastrointestinal neuromuscular disorders v1.19 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source Expert Review Red was added to STR: DMPK_CTG.
Source NHS GMS was added to STR: DMPK_CTG.
Fetal hydrops v1.48 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source Expert Review Red was added to STR: DMPK_CTG.
Source NHS GMS was added to STR: DMPK_CTG.
Fetal anomalies v1.840 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Inborn errors of metabolism v2.226 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
DDG2P v2.63 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Congenital myopathy v2.75 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital muscular dystrophy v2.24 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paroxysmal central nervous system disorders v1.38 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Neurodegenerative disorders - adult onset v2.264 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Intellectual disability v3.1515 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Hereditary ataxia - adult onset v2.145 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Hereditary ataxia v1.283 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genetic epilepsy syndromes v2.493 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia or chorea or related movement disorder v1.213 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Brain channelopathy v1.71 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Adult onset movement disorder v1.162 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Skeletal muscle channelopathy v1.37 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source NHS GMS was added to STR: CNBP_CCTG.
Skeletal Muscle Channelopathies v1.42 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source Expert Review Red was added to STR: CNBP_CCTG.
Source NHS GMS was added to STR: CNBP_CCTG.
Fetal anomalies v1.840 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source NHS GMS was added to STR: CNBP_CCTG.
Distal myopathies v1.42 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source Expert Review Red was added to STR: CNBP_CCTG.
Source NHS GMS was added to STR: CNBP_CCTG.
Paroxysmal central nervous system disorders v1.38 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Neurodegenerative disorders - adult onset v2.264 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Hereditary spastic paraplegia - childhood onset v2.126 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Hereditary spastic paraplegia - adult onset v1.91 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary spastic paraplegia v1.277 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia - adult onset v2.145 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary ataxia v1.283 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Brain channelopathy v1.71 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Adult onset movement disorder v1.162 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Neurodegenerative disorders - adult onset v2.264 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.
Parkinson Disease and Complex Parkinsonism v1.94 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.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 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.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 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.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia or chorea or related movement disorder v1.213 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.
Amyotrophic lateral sclerosis/motor neuron disease v1.51 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.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v1.162 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.
Neurodegenerative disorders - adult onset v2.264 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.
Undiagnosed metabolic disorders v1.511 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 NHS GMS was added to STR: ATXN7_CAG.
Intellectual disability v3.1515 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 NHS GMS was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia - childhood onset v2.126 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 NHS GMS was added to STR: ATXN7_CAG.
Hereditary spastic paraplegia - adult onset v1.91 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.
Hereditary spastic paraplegia v1.277 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 NHS GMS was added to STR: ATXN7_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 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 NHS GMS was added to STR: ATXN7_CAG.
Hereditary ataxia - adult onset v2.145 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.
Hereditary ataxia v1.283 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 NHS GMS was added to STR: ATXN7_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 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 NHS GMS was added to STR: ATXN7_CAG.
Neurodegenerative disorders - adult onset v2.264 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Parkinson Disease and Complex Parkinsonism v1.94 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia - childhood onset v2.126 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Hereditary spastic paraplegia - adult onset v1.91 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary spastic paraplegia v1.277 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia - adult onset v2.145 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary ataxia v1.283 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dystonia v1.106 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source NHS GMS was added to STR: ATXN3_CAG.
Adult onset movement disorder v1.162 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Neurodegenerative disorders - adult onset v2.264 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.
Parkinson Disease and Complex Parkinsonism v1.94 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 NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 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 NHS GMS was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia - childhood onset v2.126 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 NHS GMS was added to STR: ATXN2_CAG.
Hereditary spastic paraplegia - adult onset v1.91 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.
Hereditary spastic paraplegia v1.277 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 NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 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 NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia - adult onset v2.145 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.
Hereditary ataxia v1.283 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 NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dystonia v1.106 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 NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 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 NHS GMS was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia or chorea or related movement disorder v1.213 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 NHS GMS was added to STR: ATXN2_CAG.
Ataxia and cerebellar anomalies - narrow panel v2.284 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 NHS GMS was added to STR: ATXN2_CAG.
Amyotrophic lateral sclerosis/motor neuron disease v1.51 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 NHS GMS was added to STR: ATXN2_CAG.
Adult onset movement disorder v1.162 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.
Thoracic dystrophies v1.16 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Skeletal dysplasia v2.187 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Neurodegenerative disorders - adult onset v2.264 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Intellectual disability v3.1515 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Hereditary spastic paraplegia - childhood onset v2.126 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Hereditary spastic paraplegia - adult onset v1.91 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Hereditary spastic paraplegia v1.277 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia - adult onset v2.145 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Hereditary ataxia v1.283 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dystonia v1.106 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source NHS GMS was added to STR: ATXN10_ATTCT.
Neurodegenerative disorders - adult onset v2.264 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.
Parkinson Disease and Complex Parkinsonism v1.94 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 NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1515 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 NHS GMS was added to STR: ATXN1_CAG.
Hereditary spastic paraplegia - childhood onset v2.126 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 NHS GMS was added to STR: ATXN1_CAG.
Hereditary spastic paraplegia - adult onset v1.91 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.
Hereditary spastic paraplegia v1.277 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 NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy v1.434 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 NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia - adult onset v2.145 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.
Hereditary ataxia v1.283 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 NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 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 NHS GMS was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 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 NHS GMS was added to STR: ATXN1_CAG.
Adult onset movement disorder v1.162 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.
Paroxysmal central nervous system disorders v1.38 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Neurodegenerative disorders - adult onset v2.264 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Parkinson Disease and Complex Parkinsonism v1.94 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia - adult onset v2.145 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Hereditary ataxia v1.283 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Genetic epilepsy syndromes v2.493 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)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.65 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Brain channelopathy v1.71 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.284 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source NHS GMS was added to STR: ATN1_CAG.
Adult onset movement disorder v1.162 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Neurodegenerative disorders - adult onset v2.264 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Paediatric motor neuronopathies v1.74 AR_CAG Arina Puzriakova GRCh37 position for AR_CAG was changed from - to 66765160-66765225.
Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Hereditary neuropathy NOT PMP22 copy number v1.84 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Hereditary neuropathy v1.434 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Distal myopathies v1.42 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital myopathy v2.75 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.51 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Source NHS GMS was added to STR: AR_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.263 SORL1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: SORL1.
Neurodegenerative disorders - adult onset v2.263 FIG4 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: FIG4.
Tag Q4_21_expert_review was removed from gene: FIG4.
Neurodegenerative disorders - adult onset v2.263 ERBB4 Eleanor Williams Tag Q2_21_rating was removed from gene: ERBB4.
Neurodegenerative disorders - adult onset v2.263 FIG4 Sarah Leigh commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Neurodegenerative disorders - adult onset v2.263 ERBB4 Sarah Leigh commented on gene: ERBB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Neurodegenerative disorders - adult onset v2.262 FIG4 Eleanor Williams Source Expert Review Red was added to FIG4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.262 ERBB4 Eleanor Williams Source Expert Review Green was added to ERBB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova Tag for-review was removed from Region: ISCA-46302-Gain.
Disorders of sex development v2.58 ISCA-46302-Gain Arina Puzriakova Tag for-review was removed from Region: ISCA-46302-Gain.
Disorders of sex development v2.58 ISCA-46302-Gain Arina Puzriakova Classified Region: ISCA-46302-Gain as Green List (high evidence)
Disorders of sex development v2.58 ISCA-46302-Gain Arina Puzriakova Region: isca-46302-gain has been classified as Green List (High Evidence).
Disorders of sex development v2.57 ISCA-46302-Gain Arina Puzriakova commented on Region: ISCA-46302-Gain
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova commented on Region: ISCA-46302-Gain
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova Haploinsufficiency Score for ISCA-46302-Gain was changed from None to .
Source Expert Review Green was added to Region: ISCA-46302-Gain.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.96 NADSYN1 Arina Puzriakova Tag for-review was removed from gene: NADSYN1.
Paediatric disorders - additional genes v1.96 MYOCD Arina Puzriakova Tag for-review was removed from gene: MYOCD.
Paediatric disorders - additional genes v1.96 LRIG2 Arina Puzriakova Tag for-review was removed from gene: LRIG2.
Paediatric disorders - additional genes v1.96 ITGA8 Arina Puzriakova Tag for-review was removed from gene: ITGA8.
Paediatric disorders - additional genes v1.96 GREB1L Arina Puzriakova Tag for-review was removed from gene: GREB1L.
Paediatric disorders - additional genes v1.96 GATA3 Arina Puzriakova Tag for-review was removed from gene: GATA3.
Paediatric disorders - additional genes v1.96 CHRNA3 Arina Puzriakova Tag for-review was removed from gene: CHRNA3.
Paediatric disorders - additional genes v1.96 ANOS1 Arina Puzriakova Tag for-review was removed from gene: ANOS1.
Paediatric disorders - additional genes v1.96 AGT Arina Puzriakova Tag for-review was removed from gene: AGT.
Paediatric disorders - additional genes v1.96 AGTR1 Arina Puzriakova Tag for-review was removed from gene: AGTR1.
Paediatric disorders - additional genes v1.96 ACE Arina Puzriakova Tag for-review was removed from gene: ACE.
Paediatric disorders - additional genes v1.96 ACTG2 Arina Puzriakova Tag for-review was removed from gene: ACTG2.
Paediatric disorders - additional genes v1.96 TBX18 Arina Puzriakova Tag for-review was removed from gene: TBX18.
Paediatric disorders - additional genes v1.96 REN Arina Puzriakova Tag for-review was removed from gene: REN.
Paediatric disorders - additional genes v1.96 TSPYL1 Arina Puzriakova Tag for-review was removed from gene: TSPYL1.
Paediatric disorders - additional genes v1.96 STN1 Arina Puzriakova Tag for-review was removed from gene: STN1.
Paediatric disorders - additional genes v1.96 PIGQ Arina Puzriakova Tag for-review was removed from gene: PIGQ.
Paediatric disorders - additional genes v1.96 CDH2 Arina Puzriakova Tag for-review was removed from gene: CDH2.
Paediatric disorders - additional genes v1.96 RINT1 Arina Puzriakova Tag for-review was removed from gene: RINT1.
Paediatric disorders - additional genes v1.96 HYAL2 Arina Puzriakova Tag for-review was removed from gene: HYAL2.
Paediatric disorders - additional genes v1.96 NADSYN1 Sarah Leigh commented on gene: NADSYN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v1.96 MYOCD Sarah Leigh commented on gene: MYOCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v1.96 LRIG2 Sarah Leigh commented on gene: LRIG2
Paediatric disorders - additional genes v1.96 ITGA8 Sarah Leigh commented on gene: ITGA8
Paediatric disorders - additional genes v1.96 GREB1L Sarah Leigh commented on gene: GREB1L
Paediatric disorders - additional genes v1.96 GATA3 Sarah Leigh commented on gene: GATA3
Paediatric disorders - additional genes v1.96 CHRNA3 Sarah Leigh commented on gene: CHRNA3
Paediatric disorders - additional genes v1.96 ANOS1 Sarah Leigh commented on gene: ANOS1
Paediatric disorders - additional genes v1.96 AGTR1 Sarah Leigh commented on gene: AGTR1
Paediatric disorders - additional genes v1.96 AGT Sarah Leigh commented on gene: AGT
Paediatric disorders - additional genes v1.96 ACE Sarah Leigh commented on gene: ACE
Paediatric disorders - additional genes v1.96 ACTG2 Sarah Leigh commented on gene: ACTG2
Paediatric disorders - additional genes v1.96 TBX18 Sarah Leigh commented on gene: TBX18
Paediatric disorders - additional genes v1.96 REN Sarah Leigh commented on gene: REN
Paediatric disorders - additional genes v1.96 TSPYL1 Sarah Leigh commented on gene: TSPYL1
Paediatric disorders - additional genes v1.96 STN1 Sarah Leigh commented on gene: STN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v1.96 PIGQ Sarah Leigh commented on gene: PIGQ: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric disorders - additional genes v1.96 CDH2 Sarah Leigh commented on gene: CDH2
Paediatric disorders - additional genes v1.96 RINT1 Sarah Leigh commented on gene: RINT1
Paediatric disorders - additional genes v1.96 HYAL2 Sarah Leigh commented on gene: HYAL2
Paediatric disorders - additional genes v1.95 NADSYN1 Arina Puzriakova Source Expert Review Green was added to NADSYN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 MYOCD Arina Puzriakova Source Expert Review Green was added to MYOCD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 LRIG2 Arina Puzriakova Source Expert Review Green was added to LRIG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 ITGA8 Arina Puzriakova Source Expert Review Green was added to ITGA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 GREB1L Arina Puzriakova Source Expert Review Green was added to GREB1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 GATA3 Arina Puzriakova Source Expert Review Green was added to GATA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 CHRNA3 Arina Puzriakova Source Expert Review Green was added to CHRNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 ANOS1 Arina Puzriakova Source Expert Review Green was added to ANOS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 AGTR1 Arina Puzriakova Source Expert Review Green was added to AGTR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 AGT Arina Puzriakova Source Expert Review Green was added to AGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 ACE Arina Puzriakova Source Expert Review Green was added to ACE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 ACTG2 Arina Puzriakova Source Expert Review Green was added to ACTG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 TBX18 Arina Puzriakova Source Expert Review Green was added to TBX18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 REN Arina Puzriakova Source Expert Review Green was added to REN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 TSPYL1 Arina Puzriakova Source Expert Review Green was added to TSPYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 STN1 Arina Puzriakova Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 PIGQ Arina Puzriakova Source Expert Review Green was added to PIGQ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 CDH2 Arina Puzriakova Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 RINT1 Arina Puzriakova Source Expert Review Green was added to RINT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.95 HYAL2 Arina Puzriakova Source Expert Review Green was added to HYAL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.293 CEP63 Eleanor Williams Tag Q2_21_expert_review was removed from gene: CEP63.
Severe microcephaly v2.293 YIPF5 Eleanor Williams Tag Q2_21_rating was removed from gene: YIPF5.
Severe microcephaly v2.293 WDR4 Eleanor Williams Tag Q2_21_rating was removed from gene: WDR4.
Severe microcephaly v2.293 WDR37 Eleanor Williams Tag Q2_21_rating was removed from gene: WDR37.
Severe microcephaly v2.293 WDR11 Eleanor Williams Tag Q4_21_rating was removed from gene: WDR11.
Severe microcephaly v2.293 VRK1 Eleanor Williams Tag Q3_21_rating was removed from gene: VRK1.
Severe microcephaly v2.293 UNC80 Eleanor Williams Tag Q2_21_rating was removed from gene: UNC80.
Severe microcephaly v2.293 UGP2 Eleanor Williams Tag Q2_21_rating was removed from gene: UGP2.
Severe microcephaly v2.293 TSEN54 Eleanor Williams Tag Q2_21_rating was removed from gene: TSEN54.
Severe microcephaly v2.293 TSEN15 Eleanor Williams Tag Q2_21_rating was removed from gene: TSEN15.
Severe microcephaly v2.293 TRIO Eleanor Williams Tag Q2_21_rating was removed from gene: TRIO.
Severe microcephaly v2.293 TRAPPC9 Eleanor Williams Tag Q2_21_rating was removed from gene: TRAPPC9.
Severe microcephaly v2.293 TRAPPC6B Eleanor Williams Tag Q2_21_rating was removed from gene: TRAPPC6B.
Severe microcephaly v2.293 TP53RK Eleanor Williams Tag Q2_21_rating was removed from gene: TP53RK.
Severe microcephaly v2.293 TNPO2 Eleanor Williams Tag Q3_21_rating was removed from gene: TNPO2.
Severe microcephaly v2.293 SMARCA5 Eleanor Williams Tag Q2_21_rating was removed from gene: SMARCA5.
Severe microcephaly v2.293 SLC1A4 Eleanor Williams Tag Q2_21_rating was removed from gene: SLC1A4.
Severe microcephaly v2.293 RAD51 Eleanor Williams Tag Q4_21_rating was removed from gene: RAD51.
Severe microcephaly v2.293 RAD50 Eleanor Williams Tag Q2_21_rating was removed from gene: RAD50.
Severe microcephaly v2.293 PUS7 Eleanor Williams Tag Q2_21_rating was removed from gene: PUS7.
Severe microcephaly v2.293 PUF60 Eleanor Williams Tag Q2_21_rating was removed from gene: PUF60.
Severe microcephaly v2.293 PTPN23 Eleanor Williams Tag Q2_21_rating was removed from gene: PTPN23.
Severe microcephaly v2.293 POGZ Eleanor Williams Tag Q2_21_rating was removed from gene: POGZ.
Severe microcephaly v2.293 PCDH12 Eleanor Williams Tag Q3_21_rating was removed from gene: PCDH12.
Severe microcephaly v2.293 OSGEP Eleanor Williams Tag Q3_21_rating was removed from gene: OSGEP.
Severe microcephaly v2.293 NUP107 Eleanor Williams Tag Q3_21_rating was removed from gene: NUP107.
Severe microcephaly v2.293 MINPP1 Eleanor Williams Tag Q2_21_rating was removed from gene: MINPP1.
Severe microcephaly v2.293 LAGE3 Eleanor Williams Tag Q3_21_rating was removed from gene: LAGE3.
Severe microcephaly v2.293 HPDL Eleanor Williams Tag Q2_21_rating was removed from gene: HPDL.
Severe microcephaly v2.293 HIST1H4C Eleanor Williams Tag Q3_21_rating was removed from gene: HIST1H4C.
Severe microcephaly v2.293 GTF2E2 Eleanor Williams Tag Q3_21_rating was removed from gene: GTF2E2.
Severe microcephaly v2.293 GPT2 Eleanor Williams Tag Q4_21_rating was removed from gene: GPT2.
Severe microcephaly v2.293 FOXG1 Eleanor Williams Tag Q2_21_rating was removed from gene: FOXG1.
Severe microcephaly v2.293 EIF5A Eleanor Williams Tag Q2_21_rating was removed from gene: EIF5A.
Severe microcephaly v2.293 EIF2S3 Eleanor Williams Tag Q3_21_rating was removed from gene: EIF2S3.
Severe microcephaly v2.293 DYNC1I2 Eleanor Williams Tag Q4_21_rating was removed from gene: DYNC1I2.
Severe microcephaly v2.293 DPM1 Eleanor Williams Tag Q2_21_rating was removed from gene: DPM1.
Severe microcephaly v2.293 DNA2 Eleanor Williams Tag Q2_21_rating was removed from gene: DNA2.
Severe microcephaly v2.293 CTU2 Eleanor Williams Tag Q2_21_rating was removed from gene: CTU2.
Severe microcephaly v2.293 CTCF Eleanor Williams Tag Q2_21_rating was removed from gene: CTCF.
Severe microcephaly v2.293 CSNK2A1 Eleanor Williams Tag Q2_21_rating was removed from gene: CSNK2A1.
Severe microcephaly v2.293 CHAMP1 Eleanor Williams Tag Q2_21_rating was removed from gene: CHAMP1.
Severe microcephaly v2.293 CEP63 Eleanor Williams Phenotypes for gene: CEP63 were changed from MCPH; primary microcephaly; ?Seckel syndrome 6, 614728; Microcephaly to MCPH; primary microcephaly; ?Seckel syndrome 6, OMIM:614728; Microcephaly
Severe microcephaly v2.292 CEP57 Eleanor Williams Tag Q2_21_rating was removed from gene: CEP57.
Severe microcephaly v2.292 CAMK2B Eleanor Williams Tag Q2_21_rating was removed from gene: CAMK2B.
Severe microcephaly v2.292 BUB1B Eleanor Williams Tag Q2_21_rating was removed from gene: BUB1B.
Severe microcephaly v2.292 BPTF Eleanor Williams Tag Q2_21_rating was removed from gene: BPTF.
Severe microcephaly v2.292 AARS Eleanor Williams Tag Q2_21_rating was removed from gene: AARS.
Severe microcephaly v2.292 YIPF5 Sarah Leigh commented on gene: YIPF5
Severe microcephaly v2.292 WDR4 Sarah Leigh commented on gene: WDR4
Severe microcephaly v2.292 WDR37 Sarah Leigh commented on gene: WDR37
Severe microcephaly v2.292 WDR11 Sarah Leigh commented on gene: WDR11
Severe microcephaly v2.292 VRK1 Sarah Leigh commented on gene: VRK1
Severe microcephaly v2.292 UNC80 Sarah Leigh commented on gene: UNC80
Severe microcephaly v2.292 UGP2 Sarah Leigh commented on gene: UGP2
Severe microcephaly v2.292 TSEN54 Sarah Leigh commented on gene: TSEN54
Severe microcephaly v2.292 TSEN15 Sarah Leigh commented on gene: TSEN15
Severe microcephaly v2.292 TRIO Sarah Leigh commented on gene: TRIO
Severe microcephaly v2.292 TRAPPC9 Sarah Leigh commented on gene: TRAPPC9
Severe microcephaly v2.292 TRAPPC6B Sarah Leigh commented on gene: TRAPPC6B
Severe microcephaly v2.292 TP53RK Sarah Leigh commented on gene: TP53RK
Severe microcephaly v2.292 TNPO2 Sarah Leigh commented on gene: TNPO2
Severe microcephaly v2.292 SMARCA5 Sarah Leigh commented on gene: SMARCA5
Severe microcephaly v2.292 SLC1A4 Sarah Leigh commented on gene: SLC1A4
Severe microcephaly v2.292 RAD51 Sarah Leigh commented on gene: RAD51
Severe microcephaly v2.292 RAD50 Sarah Leigh commented on gene: RAD50
Severe microcephaly v2.292 PUS7 Sarah Leigh commented on gene: PUS7
Severe microcephaly v2.292 PUF60 Sarah Leigh commented on gene: PUF60
Severe microcephaly v2.292 PTPN23 Sarah Leigh commented on gene: PTPN23
Severe microcephaly v2.292 POGZ Sarah Leigh commented on gene: POGZ
Severe microcephaly v2.292 PCDH12 Sarah Leigh commented on gene: PCDH12
Severe microcephaly v2.292 OSGEP Sarah Leigh commented on gene: OSGEP
Severe microcephaly v2.292 NUP107 Sarah Leigh commented on gene: NUP107
Severe microcephaly v2.292 MINPP1 Sarah Leigh commented on gene: MINPP1
Severe microcephaly v2.292 LAGE3 Sarah Leigh commented on gene: LAGE3
Severe microcephaly v2.292 HPDL Sarah Leigh commented on gene: HPDL
Severe microcephaly v2.292 HIST1H4C Sarah Leigh commented on gene: HIST1H4C
Severe microcephaly v2.292 GTF2E2 Sarah Leigh commented on gene: GTF2E2
Severe microcephaly v2.292 GPT2 Sarah Leigh commented on gene: GPT2
Severe microcephaly v2.292 FOXG1 Sarah Leigh commented on gene: FOXG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.292 EIF5A Sarah Leigh commented on gene: EIF5A
Severe microcephaly v2.292 EIF2S3 Sarah Leigh commented on gene: EIF2S3
Severe microcephaly v2.292 DYNC1I2 Sarah Leigh commented on gene: DYNC1I2
Severe microcephaly v2.292 DPM1 Sarah Leigh commented on gene: DPM1
Severe microcephaly v2.292 DNA2 Sarah Leigh commented on gene: DNA2
Severe microcephaly v2.292 CTU2 Sarah Leigh commented on gene: CTU2
Severe microcephaly v2.292 CTCF Sarah Leigh commented on gene: CTCF
Severe microcephaly v2.292 CSNK2A1 Sarah Leigh commented on gene: CSNK2A1
Severe microcephaly v2.292 CHAMP1 Sarah Leigh commented on gene: CHAMP1
Severe microcephaly v2.292 CEP63 Sarah Leigh commented on gene: CEP63
Severe microcephaly v2.292 CEP57 Sarah Leigh commented on gene: CEP57
Severe microcephaly v2.292 CAMK2B Sarah Leigh commented on gene: CAMK2B
Severe microcephaly v2.292 BUB1B Sarah Leigh commented on gene: BUB1B
Severe microcephaly v2.292 BPTF Sarah Leigh commented on gene: BPTF
Severe microcephaly v2.292 AARS Sarah Leigh commented on gene: AARS
Severe microcephaly v2.291 YIPF5 Eleanor Williams Source Expert Review Green was added to YIPF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 WDR4 Eleanor Williams Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 WDR37 Eleanor Williams Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 WDR11 Eleanor Williams Source Expert Review Green was added to WDR11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 VRK1 Eleanor Williams Source Expert Review Green was added to VRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 UNC80 Eleanor Williams Source Expert Review Green was added to UNC80.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 UGP2 Eleanor Williams Source Expert Review Green was added to UGP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TSEN54 Eleanor Williams Source Expert Review Green was added to TSEN54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TSEN15 Eleanor Williams Source Expert Review Green was added to TSEN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TRIO Eleanor Williams Source Expert Review Green was added to TRIO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TRAPPC9 Eleanor Williams Source Expert Review Green was added to TRAPPC9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TRAPPC6B Eleanor Williams Source Expert Review Green was added to TRAPPC6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TP53RK Eleanor Williams Source Expert Review Green was added to TP53RK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 TNPO2 Eleanor Williams Source Expert Review Green was added to TNPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 SMARCA5 Eleanor Williams Source Expert Review Green was added to SMARCA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 SLC1A4 Eleanor Williams Source Expert Review Green was added to SLC1A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 RAD51 Eleanor Williams Source Expert Review Green was added to RAD51.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.291 RAD50 Eleanor Williams Source Expert Review Green was added to RAD50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)