Activity

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Date Panel Item Activity
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Neuromuscular disorders v5.177 Arina Puzriakova Panel version 5.172 has been signed off on 2021-12-16
Hypertrophic cardiomyopathy - teen and adult v2.19 Arina Puzriakova Panel version 2.18 has been signed off on 2021-12-16
Mitochondrial disorders v2.24 Arina Puzriakova Panel version 2.23 has been signed off on 2021-12-16
Paediatric motor neuronopathies v1.64 Arina Puzriakova Panel version 1.63 has been signed off on 2021-12-16
Inborn errors of metabolism v2.105 Arina Puzriakova Panel version 2.104 has been signed off on 2021-12-16
Skeletal muscle channelopathy v1.24 Arina Puzriakova Panel version 1.23 has been signed off on 2021-12-16
Childhood onset dystonia or chorea or related movement disorder v1.87 Arina Puzriakova Panel version 1.86 has been signed off on 2021-12-16
Intellectual disability v3.1002 Arina Puzriakova Panel version 3.1001 has been signed off on 2021-12-16
Skeletal dysplasia v2.85 Arina Puzriakova Panel version 2.84 has been signed off on 2021-12-16
Hereditary spastic paraplegia - adult onset v1.26 Arina Puzriakova Panel version 1.25 has been signed off on 2021-12-16
Hereditary spastic paraplegia - childhood onset v2.37 Arina Puzriakova Panel version 2.36 has been signed off on 2021-12-16
Adult onset movement disorder v1.82 Arina Puzriakova Panel version 1.81 has been signed off on 2021-12-16
Genetic epilepsy syndromes v2.312 Arina Puzriakova Panel version 2.311 has been signed off on 2021-12-16
Paroxysmal central nervous system disorders v1.15 Arina Puzriakova Panel version 1.14 has been signed off on 2021-12-16
Hereditary ataxia - adult onset v2.36 Arina Puzriakova Panel version 2.35 has been signed off on 2021-12-16
Ataxia and cerebellar anomalies - narrow panel v2.65 Arina Puzriakova Panel version 2.64 has been signed off on 2021-12-16
Hereditary neuropathy NOT PMP22 copy number v1.28 Arina Puzriakova Panel version 1.27 has been signed off on 2021-12-16
Neurodegenerative disorders - adult onset v2.57 Arina Puzriakova Panel version 2.56 has been signed off on 2021-12-16
Congenital myopathy v2.33 Arina Puzriakova Panel version 2.32 has been signed off on 2021-12-16
Congenital muscular dystrophy v2.9 Arina Puzriakova Panel version 2.8 has been signed off on 2021-12-16
Distal myopathies v1.33 Arina Puzriakova Panel version 1.32 has been signed off on 2021-12-16
Adult onset movement disorder v1.81 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary ataxia - adult onset v2.35 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Neurodegenerative disorders - adult onset v2.56 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary spastic paraplegia - adult onset v1.25 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary spastic paraplegia - childhood onset v2.36 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary spastic paraplegia v1.235 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.235 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.234 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source Expert Review was removed from STR: HTT_CAG.
Source Expert list was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Structural basal ganglia disorders v1.19 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Hereditary ataxia v1.232 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Hereditary ataxia v1.232 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.231 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source Expert Review was removed from STR: HTT_CAG.
Source Expert list was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.64 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Brain channelopathy v1.66 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.62 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.62 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.61 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source Expert Review was removed from STR: HTT_CAG.
Source Expert list was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.85 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.85 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.84 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1001 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Adult onset movement disorder v1.80 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Hereditary ataxia - adult onset v2.34 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Hereditary neuropathy v1.394 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Neurodegenerative disorders - adult onset v2.55 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Hereditary spastic paraplegia - adult onset v1.24 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Hereditary spastic paraplegia - childhood onset v2.35 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Hereditary spastic paraplegia v1.233 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.233 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.232 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source Expert Review was removed from STR: PPP2R2B_CAG.
Source Expert list was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.230 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Hereditary ataxia v1.230 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.229 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.63 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Parkinson Disease and Complex Parkinsonism v1.83 PPP2R2B_CAG Arina Puzriakova Classified STR: PPP2R2B_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.83 PPP2R2B_CAG Arina Puzriakova Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.82 PPP2R2B_CAG Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33.
Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43.
Source Expert Review was removed from STR: PPP2R2B_CAG.
Source Expert list was added to STR: PPP2R2B_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v1.79 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Neurodegenerative disorders - adult onset v2.54 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Early onset dystonia v1.93 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dystonia v1.93 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Early onset dystonia v1.92 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Source Expert Review was removed from STR: JPH3_CTG.
Source Expert list was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.60 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.60 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.59 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.81 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.81 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.80 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.1000 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Intellectual disability v3.1000 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Mitochondrial disorders v2.23 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Mitochondrial disorders v2.23 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Mitochondrial disorders v2.22 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Mitochondrial disorders v2.22 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Intellectual disability v3.999 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Mitochondrial disorders v2.21 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source Expert Review was removed from STR: DMPK_CTG.
Source Expert list was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric motor neuronopathies v1.63 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Inborn errors of metabolism v2.104 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Skeletal muscle channelopathy v1.23 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Congenital myopathy v2.32 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v2.32 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v2.31 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital muscular dystrophy v2.8 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital muscular dystrophy v2.8 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital muscular dystrophy v2.7 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source Expert Review was removed from STR: DMPK_CTG.
Source Expert list was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paroxysmal central nervous system disorders v1.14 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Gastrointestinal neuromuscular disorders v1.13 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Fetal hydrops v1.26 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Skeletal Muscle Channelopathies v1.30 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Skeletal Muscle Channelopathies v1.30 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.29 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia or chorea or related movement disorder v1.86 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Intellectual disability v3.998 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Adult onset movement disorder v1.78 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Hereditary ataxia - adult onset v2.33 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Genetic epilepsy syndromes v2.311 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Genetic epilepsy syndromes v2.311 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v2.310 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source Expert list was removed from STR: CSTB_CCCCGCCCCGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.53 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Paroxysmal central nervous system disorders v1.13 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Hereditary ataxia v1.228 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Hereditary ataxia v1.228 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary ataxia v1.227 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source Expert Review was removed from STR: CSTB_CCCCGCCCCGCG.
Source Expert list was added to STR: CSTB_CCCCGCCCCGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.62 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Brain channelopathy v1.65 CSTB_CCCCGCCCCGCG Arina Puzriakova Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Brain channelopathy v1.65 CSTB_CCCCGCCCCGCG Arina Puzriakova Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Brain channelopathy v1.64 CSTB_CCCCGCCCCGCG Arina Puzriakova Normal Number of Repeats for CSTB_CCCCGCCCCGCG was changed from 30 to 18.
Source Expert Review was removed from STR: CSTB_CCCCGCCCCGCG.
Source Expert list was added to STR: CSTB_CCCCGCCCCGCG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal muscle channelopathy v1.22 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Distal myopathies v1.32 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Skeletal Muscle Channelopathies v1.28 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Adult onset movement disorder v1.77 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary ataxia - adult onset v2.32 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Neurodegenerative disorders - adult onset v2.52 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary spastic paraplegia - adult onset v1.23 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary spastic paraplegia - childhood onset v2.34 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary spastic paraplegia v1.231 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.231 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.230 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source Expert Review was removed from STR: CACNA1A_CAG.
Source Expert list was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paroxysmal central nervous system disorders v1.12 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Hereditary ataxia v1.226 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Hereditary ataxia v1.226 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.225 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.61 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Brain channelopathy v1.63 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Green List (high evidence)
Brain channelopathy v1.63 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.62 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source Expert Review was removed from STR: CACNA1A_CAG.
Source Expert list was added to STR: CACNA1A_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.997 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Adult onset movement disorder v1.76 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Amyotrophic lateral sclerosis/motor neuron disease v1.34 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.34 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.33 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.51 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.58 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.58 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.57 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.79 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.79 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.78 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.996 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Hereditary ataxia - adult onset v2.31 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Hereditary neuropathy v1.393 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Undiagnosed metabolic disorders v1.450 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Neurodegenerative disorders - adult onset v2.50 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Hereditary spastic paraplegia - adult onset v1.22 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Hereditary spastic paraplegia - childhood onset v2.33 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Hereditary spastic paraplegia v1.229 ATXN7_CAG Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.229 ATXN7_CAG Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.228 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Source Expert Review was removed from STR: ATXN7_CAG.
Source Expert list was added to STR: ATXN7_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.224 ATXN7_CAG Arina Puzriakova Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary ataxia v1.224 ATXN7_CAG Arina Puzriakova Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.223 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.60 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Intellectual disability v3.995 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Adult onset movement disorder v1.75 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary ataxia - adult onset v2.30 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary neuropathy v1.392 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary neuropathy v1.392 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.391 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source Expert Review was removed from STR: ATXN3_CAG.
Source Expert list was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.49 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary spastic paraplegia - adult onset v1.21 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary spastic paraplegia - childhood onset v2.32 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Hereditary spastic paraplegia v1.227 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.227 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.226 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source Expert Review was removed from STR: ATXN3_CAG.
Source Expert list was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.222 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Hereditary ataxia v1.222 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.221 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.59 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Early onset dystonia v1.91 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Early onset dystonia v1.91 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Early onset dystonia v1.90 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Source Expert Review was removed from STR: ATXN3_CAG.
Source Expert list was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.77 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.77 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.76 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia or chorea or related movement disorder v1.85 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Intellectual disability v3.994 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Adult onset movement disorder v1.74 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Hereditary ataxia - adult onset v2.29 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Hereditary neuropathy v1.390 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary neuropathy v1.390 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.389 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source Expert Review was removed from STR: ATXN2_CAG.
Source Expert list was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.32 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Neurodegenerative disorders - adult onset v2.48 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Hereditary spastic paraplegia - adult onset v1.20 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Hereditary spastic paraplegia - childhood onset v2.31 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Hereditary spastic paraplegia v1.225 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.225 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.224 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source Expert Review was removed from STR: ATXN2_CAG.
Source Expert list was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.220 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Hereditary ataxia v1.220 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.219 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.58 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Early onset dystonia v1.89 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Early onset dystonia v1.89 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dystonia v1.88 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Source Expert Review was removed from STR: ATXN2_CAG.
Source Expert list was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.56 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.56 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.55 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Rating Changed from Green List (high evidence) to No List (delete)
Parkinson Disease and Complex Parkinsonism v1.75 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.75 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.74 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v1.73 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Intellectual disability v3.993 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Hereditary ataxia - adult onset v2.28 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Hereditary neuropathy v1.388 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary neuropathy v1.388 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.387 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source Expert Review was removed from STR: ATXN1_CAG.
Source Expert list was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.47 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Hereditary spastic paraplegia - adult onset v1.19 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Hereditary spastic paraplegia - childhood onset v2.30 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Hereditary spastic paraplegia v1.223 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary spastic paraplegia v1.223 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.222 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source Expert Review was removed from STR: ATXN1_CAG.
Source Expert list was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.218 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Hereditary ataxia v1.218 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.217 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.57 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.54 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.54 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.53 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source Expert Review was removed from STR: ATXN1_CAG.
Source Expert list was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.73 ATXN1_CAG Arina Puzriakova Classified STR: ATXN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.73 ATXN1_CAG Arina Puzriakova Str: atxn1_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.72 ATXN1_CAG Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36.
Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45.
Source Expert Review was removed from STR: ATXN1_CAG.
Source Expert list was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia - adult onset v2.27 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Intellectual disability v3.992 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Hereditary neuropathy v1.386 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary neuropathy v1.386 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary neuropathy v1.385 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source Expert Review was removed from STR: ATXN10_ATTCT.
Source Expert list was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.46 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Hereditary spastic paraplegia - adult onset v1.18 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Skeletal dysplasia v2.84 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Hereditary spastic paraplegia - childhood onset v2.29 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Hereditary spastic paraplegia v1.221 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary spastic paraplegia v1.221 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.220 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source Expert Review was removed from STR: ATXN10_ATTCT.
Source Expert list was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia v1.216 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Hereditary ataxia v1.216 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Hereditary ataxia v1.215 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Thoracic dystrophies v1.13 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Ataxia and cerebellar anomalies - narrow panel v2.56 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Early onset dystonia v1.87 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source Expert Review was removed from STR: ATXN10_ATTCT.
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.52 ATXN10_ATTCT Arina Puzriakova Classified STR: ATXN10_ATTCT as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.52 ATXN10_ATTCT Arina Puzriakova Str: atxn10_attct has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.51 ATXN10_ATTCT Arina Puzriakova Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Source Expert Review was removed from STR: ATXN10_ATTCT.
Source Expert list was added to STR: ATXN10_ATTCT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset movement disorder v1.72 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Hereditary ataxia - adult onset v2.26 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Genetic epilepsy syndromes v2.309 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Genetic epilepsy syndromes v2.309 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Genetic epilepsy syndromes v2.308 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source Expert Review was removed from STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.45 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Paroxysmal central nervous system disorders v1.11 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Hereditary ataxia v1.214 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Hereditary ataxia v1.214 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Hereditary ataxia v1.213 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ataxia and cerebellar anomalies - narrow panel v2.55 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Brain channelopathy v1.61 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Brain channelopathy v1.61 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Brain channelopathy v1.60 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.50 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.50 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.49 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.71 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.71 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.70 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Source Expert Review was removed from STR: ATN1_CAG.
Source Expert list was added to STR: ATN1_CAG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary neuropathy NOT PMP22 copy number v1.27 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Hereditary neuropathy v1.384 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Amyotrophic lateral sclerosis/motor neuron disease v1.31 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Amyotrophic lateral sclerosis/motor neuron disease v1.31 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Amyotrophic lateral sclerosis/motor neuron disease v1.30 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Neurodegenerative disorders - adult onset v2.44 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Congenital myopathy v2.30 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Congenital myopathy v2.30 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Congenital myopathy v2.29 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Rating Changed from Green List (high evidence) to No List (delete)
Distal myopathies v1.31 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Distal myopathies v1.31 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Distal myopathies v1.30 AR_CAG Arina Puzriakova Normal Number of Repeats for AR_CAG was changed from 34 to 35.
Rating Changed from Green List (high evidence) to No List (delete)
NewbornFullV1 v0.1 IRS4 Ivone Leong gene: IRS4 was added
gene: IRS4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 TBL1X Ivone Leong gene: TBL1X was added
gene: TBL1X was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TBL1X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 IGSF1 Ivone Leong gene: IGSF1 was added
gene: IGSF1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 AVPR2 Ivone Leong gene: AVPR2 was added
gene: AVPR2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 MAGED2 Ivone Leong gene: MAGED2 was added
gene: MAGED2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 PRPS1 Ivone Leong gene: PRPS1 was added
gene: PRPS1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 COL4A5 Ivone Leong gene: COL4A5 was added
gene: COL4A5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 BTK Ivone Leong gene: BTK was added
gene: BTK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 MAGT1 Ivone Leong gene: MAGT1 was added
gene: MAGT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 TAZ Ivone Leong gene: TAZ was added
gene: TAZ was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 WAS Ivone Leong gene: WAS was added
gene: WAS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 CD40LG Ivone Leong gene: CD40LG was added
gene: CD40LG was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 SOX3 Ivone Leong gene: SOX3 was added
gene: SOX3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 GPR101 Ivone Leong gene: GPR101 was added
gene: GPR101 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GPR101 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 NR0B1 Ivone Leong gene: NR0B1 was added
gene: NR0B1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 DMD Ivone Leong gene: DMD was added
gene: DMD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 F9 Ivone Leong gene: F9 was added
gene: F9 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 F8 Ivone Leong gene: F8 was added
gene: F8 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 IDS Ivone Leong gene: IDS was added
gene: IDS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 ALAS2 Ivone Leong gene: ALAS2 was added
gene: ALAS2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 PHEX Ivone Leong gene: PHEX was added
gene: PHEX was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 GLA Ivone Leong gene: GLA was added
gene: GLA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 SLC35A2 Ivone Leong gene: SLC35A2 was added
gene: SLC35A2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 CFP Ivone Leong gene: CFP was added
gene: CFP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 CYBB Ivone Leong gene: CYBB was added
gene: CYBB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 ABCD1 Ivone Leong gene: ABCD1 was added
gene: ABCD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 TSR2 Ivone Leong gene: TSR2 was added
gene: TSR2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 GATA1 Ivone Leong gene: GATA1 was added
gene: GATA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 FANCB Ivone Leong gene: FANCB was added
gene: FANCB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 XIAP Ivone Leong gene: XIAP was added
gene: XIAP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 SH2D1A Ivone Leong gene: SH2D1A was added
gene: SH2D1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 FOXP3 Ivone Leong gene: FOXP3 was added
gene: FOXP3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 IKBKG Ivone Leong gene: IKBKG was added
gene: IKBKG was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 IL2RG Ivone Leong gene: IL2RG was added
gene: IL2RG was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 PHKA1 Ivone Leong gene: PHKA1 was added
gene: PHKA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 PHKA2 Ivone Leong gene: PHKA2 was added
gene: PHKA2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 OTC Ivone Leong gene: OTC was added
gene: OTC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
NewbornFullV1 v0.1 TREX1 Ivone Leong gene: TREX1 was added
gene: TREX1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ADAR Ivone Leong gene: ADAR was added
gene: ADAR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GH1 Ivone Leong gene: GH1 was added
gene: GH1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AQP2 Ivone Leong gene: AQP2 was added
gene: AQP2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COL4A3 Ivone Leong gene: COL4A3 was added
gene: COL4A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COL4A4 Ivone Leong gene: COL4A4 was added
gene: COL4A4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TCF3 Ivone Leong gene: TCF3 was added
gene: TCF3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TCF3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PIK3R1 Ivone Leong gene: PIK3R1 was added
gene: PIK3R1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 STAT1 Ivone Leong gene: STAT1 was added
gene: STAT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CARD11 Ivone Leong gene: CARD11 was added
gene: CARD11 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PIK3CD Ivone Leong gene: PIK3CD was added
gene: PIK3CD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PIK3CD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 KLHL3 Ivone Leong gene: KLHL3 was added
gene: KLHL3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC4A1 Ivone Leong gene: SLC4A1 was added
gene: SLC4A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HESX1 Ivone Leong gene: HESX1 was added
gene: HESX1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 POU1F1 Ivone Leong gene: POU1F1 was added
gene: POU1F1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC2A1 Ivone Leong gene: SLC2A1 was added
gene: SLC2A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GCH1 Ivone Leong gene: GCH1 was added
gene: GCH1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CLCN1 Ivone Leong gene: CLCN1 was added
gene: CLCN1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CHRNB1 Ivone Leong gene: CHRNB1 was added
gene: CHRNB1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CHRND Ivone Leong gene: CHRND was added
gene: CHRND was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CHRND was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CHRNA1 Ivone Leong gene: CHRNA1 was added
gene: CHRNA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CHRNE Ivone Leong gene: CHRNE was added
gene: CHRNE was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SERPING1 Ivone Leong gene: SERPING1 was added
gene: SERPING1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SERPING1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CFH Ivone Leong gene: CFH was added
gene: CFH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD46 Ivone Leong gene: CD46 was added
gene: CD46 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD46 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CFHR1 Ivone Leong gene: CFHR1 was added
gene: CFHR1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CFHR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RAC2 Ivone Leong gene: RAC2 was added
gene: RAC2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RAC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 WFS1 Ivone Leong gene: WFS1 was added
gene: WFS1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NEUROD1 Ivone Leong gene: NEUROD1 was added
gene: NEUROD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 INS Ivone Leong gene: INS was added
gene: INS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ABCC8 Ivone Leong gene: ABCC8 was added
gene: ABCC8 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GLRB Ivone Leong gene: GLRB was added
gene: GLRB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC6A5 Ivone Leong gene: SLC6A5 was added
gene: SLC6A5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GLRA1 Ivone Leong gene: GLRA1 was added
gene: GLRA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HFE Ivone Leong gene: HFE was added
gene: HFE was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CP Ivone Leong gene: CP was added
gene: CP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MUTYH Ivone Leong gene: MUTYH was added
gene: MUTYH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LDLRAP1 Ivone Leong gene: LDLRAP1 was added
gene: LDLRAP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SORD Ivone Leong gene: SORD was added
gene: SORD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SORD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TRMU Ivone Leong gene: TRMU was added
gene: TRMU was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TK2 Ivone Leong gene: TK2 was added
gene: TK2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DNASE2 Ivone Leong gene: DNASE2 was added
gene: DNASE2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RNU7-1 Ivone Leong gene: RNU7-1 was added
gene: RNU7-1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LSM11 Ivone Leong gene: LSM11 was added
gene: LSM11 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RNASEH2A Ivone Leong gene: RNASEH2A was added
gene: RNASEH2A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RNASEH2B Ivone Leong gene: RNASEH2B was added
gene: RNASEH2B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RNASEH2C Ivone Leong gene: RNASEH2C was added
gene: RNASEH2C was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SAMHD1 Ivone Leong gene: SAMHD1 was added
gene: SAMHD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ECHS1 Ivone Leong gene: ECHS1 was added
gene: ECHS1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HIBCH Ivone Leong gene: HIBCH was added
gene: HIBCH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP7B1 Ivone Leong gene: CYP7B1 was added
gene: CYP7B1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AKR1D1 Ivone Leong gene: AKR1D1 was added
gene: AKR1D1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HSD3B7 Ivone Leong gene: HSD3B7 was added
gene: HSD3B7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC9A3 Ivone Leong gene: SLC9A3 was added
gene: SLC9A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC26A3 Ivone Leong gene: SLC26A3 was added
gene: SLC26A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC6A6 Ivone Leong gene: SLC6A6 was added
gene: SLC6A6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RNPC3 Ivone Leong gene: RNPC3 was added
gene: RNPC3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GHR Ivone Leong gene: GHR was added
gene: GHR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GHRHR Ivone Leong gene: GHRHR was added
gene: GHRHR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 VKORC1 Ivone Leong gene: VKORC1 was added
gene: VKORC1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GGCX Ivone Leong gene: GGCX was added
gene: GGCX was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TSHB Ivone Leong gene: TSHB was added
gene: TSHB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IYD Ivone Leong gene: IYD was added
gene: IYD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FOXE1 Ivone Leong gene: FOXE1 was added
gene: FOXE1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TRHR Ivone Leong gene: TRHR was added
gene: TRHR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TSHR Ivone Leong gene: TSHR was added
gene: TSHR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC26A7 Ivone Leong gene: SLC26A7 was added
gene: SLC26A7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC5A5 Ivone Leong gene: SLC5A5 was added
gene: SLC5A5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC26A4 Ivone Leong gene: SLC26A4 was added
gene: SLC26A4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TPO Ivone Leong gene: TPO was added
gene: TPO was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DUOXA2 Ivone Leong gene: DUOXA2 was added
gene: DUOXA2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TG Ivone Leong gene: TG was added
gene: TG was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DUOX2 Ivone Leong gene: DUOX2 was added
gene: DUOX2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AHCY Ivone Leong gene: AHCY was added
gene: AHCY was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 OTULIN Ivone Leong gene: OTULIN was added
gene: OTULIN was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LPIN2 Ivone Leong gene: LPIN2 was added
gene: LPIN2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NIPAL4 Ivone Leong gene: NIPAL4 was added
gene: NIPAL4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL36RN Ivone Leong gene: IL36RN was added
gene: IL36RN was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL1RN Ivone Leong gene: IL1RN was added
gene: IL1RN was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MVK Ivone Leong gene: MVK was added
gene: MVK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MEFV Ivone Leong gene: MEFV was added
gene: MEFV was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BSND Ivone Leong gene: BSND was added
gene: BSND was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 KCNJ1 Ivone Leong gene: KCNJ1 was added
gene: KCNJ1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC12A1 Ivone Leong gene: SLC12A1 was added
gene: SLC12A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CLCNKB Ivone Leong gene: CLCNKB was added
gene: CLCNKB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TRPM6 Ivone Leong gene: TRPM6 was added
gene: TRPM6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC12A3 Ivone Leong gene: SLC12A3 was added
gene: SLC12A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GPIHBP1 Ivone Leong gene: GPIHBP1 was added
gene: GPIHBP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 APOA5 Ivone Leong gene: APOA5 was added
gene: APOA5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: APOA5 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LMF1 Ivone Leong gene: LMF1 was added
gene: LMF1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 APOC2 Ivone Leong gene: APOC2 was added
gene: APOC2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LPL Ivone Leong gene: LPL was added
gene: LPL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TFR2 Ivone Leong gene: TFR2 was added
gene: TFR2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HAMP Ivone Leong gene: HAMP was added
gene: HAMP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HFE2 Ivone Leong gene: HFE2 was added
gene: HFE2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 APRT Ivone Leong gene: APRT was added
gene: APRT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BLNK Ivone Leong gene: BLNK was added
gene: BLNK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD79B Ivone Leong gene: CD79B was added
gene: CD79B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD79A Ivone Leong gene: CD79A was added
gene: CD79A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IGLL1 Ivone Leong gene: IGLL1 was added
gene: IGLL1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IGHM Ivone Leong gene: IGHM was added
gene: IGHM was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PRKCD Ivone Leong gene: PRKCD was added
gene: PRKCD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PRKCD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 WIPF1 Ivone Leong gene: WIPF1 was added
gene: WIPF1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ARPC1B Ivone Leong gene: ARPC1B was added
gene: ARPC1B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IRF8 Ivone Leong gene: IRF8 was added
gene: IRF8 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RASGRP1 Ivone Leong gene: RASGRP1 was added
gene: RASGRP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HELLS Ivone Leong gene: HELLS was added
gene: HELLS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CDCA7 Ivone Leong gene: CDCA7 was added
gene: CDCA7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ZBTB24 Ivone Leong gene: ZBTB24 was added
gene: ZBTB24 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DNMT3B Ivone Leong gene: DNMT3B was added
gene: DNMT3B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AICDA Ivone Leong gene: AICDA was added
gene: AICDA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD70 Ivone Leong gene: CD70 was added
gene: CD70 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ITK Ivone Leong gene: ITK was added
gene: ITK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MAP3K14 Ivone Leong gene: MAP3K14 was added
gene: MAP3K14 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MAP3K14 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LIG1 Ivone Leong gene: LIG1 was added
gene: LIG1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MALT1 Ivone Leong gene: MALT1 was added
gene: MALT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL21R Ivone Leong gene: IL21R was added
gene: IL21R was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL21R was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD27 Ivone Leong gene: CD27 was added
gene: CD27 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL21 Ivone Leong gene: IL21 was added
gene: IL21 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ICOS Ivone Leong gene: ICOS was added
gene: ICOS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LRBA Ivone Leong gene: LRBA was added
gene: LRBA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CR2 Ivone Leong gene: CR2 was added
gene: CR2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MS4A1 Ivone Leong gene: MS4A1 was added
gene: MS4A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MS4A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD81 Ivone Leong gene: CD81 was added
gene: CD81 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD19 Ivone Leong gene: CD19 was added
gene: CD19 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD19 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TNFRSF13C Ivone Leong gene: TNFRSF13C was added
gene: TNFRSF13C was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TNFRSF13C was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 USP18 Ivone Leong gene: USP18 was added
gene: USP18 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 WDR1 Ivone Leong gene: WDR1 was added
gene: WDR1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SMARCD2 Ivone Leong gene: SMARCD2 was added
gene: SMARCD2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 STK4 Ivone Leong gene: STK4 was added
gene: STK4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LAMTOR2 Ivone Leong gene: LAMTOR2 was added
gene: LAMTOR2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CSF3R Ivone Leong gene: CSF3R was added
gene: CSF3R was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CSF3R was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 VPS45 Ivone Leong gene: VPS45 was added
gene: VPS45 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 JAGN1 Ivone Leong gene: JAGN1 was added
gene: JAGN1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 G6PC3 Ivone Leong gene: G6PC3 was added
gene: G6PC3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HAX1 Ivone Leong gene: HAX1 was added
gene: HAX1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 EFL1 Ivone Leong gene: EFL1 was added
gene: EFL1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DNAJC21 Ivone Leong gene: DNAJC21 was added
gene: DNAJC21 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AP3B1 Ivone Leong gene: AP3B1 was added
gene: AP3B1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LYST Ivone Leong gene: LYST was added
gene: LYST was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RAB27A Ivone Leong gene: RAB27A was added
gene: RAB27A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 STXBP2 Ivone Leong gene: STXBP2 was added
gene: STXBP2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 STX11 Ivone Leong gene: STX11 was added
gene: STX11 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 UNC13D Ivone Leong gene: UNC13D was added
gene: UNC13D was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PRF1 Ivone Leong gene: PRF1 was added
gene: PRF1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MYD88 Ivone Leong gene: MYD88 was added
gene: MYD88 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IRAK4 Ivone Leong gene: IRAK4 was added
gene: IRAK4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 UNG Ivone Leong gene: UNG was added
gene: UNG was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD40 Ivone Leong gene: CD40 was added
gene: CD40 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ITGB2 Ivone Leong gene: ITGB2 was added
gene: ITGB2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FERMT3 Ivone Leong gene: FERMT3 was added
gene: FERMT3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GALM Ivone Leong gene: GALM was added
gene: GALM was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GALK1 Ivone Leong gene: GALK1 was added
gene: GALK1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GALE Ivone Leong gene: GALE was added
gene: GALE was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GALT Ivone Leong gene: GALT was added
gene: GALT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TNFRSF11A Ivone Leong gene: TNFRSF11A was added
gene: TNFRSF11A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SNX10 Ivone Leong gene: SNX10 was added
gene: SNX10 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CA2 Ivone Leong gene: CA2 was added
gene: CA2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TCIRG1 Ivone Leong gene: TCIRG1 was added
gene: TCIRG1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CLCN7 Ivone Leong gene: CLCN7 was added
gene: CLCN7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 VDR Ivone Leong gene: VDR was added
gene: VDR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP2R1 Ivone Leong gene: CYP2R1 was added
gene: CYP2R1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP27B1 Ivone Leong gene: CYP27B1 was added
gene: CYP27B1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC4A4 Ivone Leong gene: SLC4A4 was added
gene: SLC4A4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 WDR72 Ivone Leong gene: WDR72 was added
gene: WDR72 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FOXI1 Ivone Leong gene: FOXI1 was added
gene: FOXI1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ATP6V1B1 Ivone Leong gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ATP6V0A4 Ivone Leong gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC5A1 Ivone Leong gene: SLC5A1 was added
gene: SLC5A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SI Ivone Leong gene: SI was added
gene: SI was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LHX3 Ivone Leong gene: LHX3 was added
gene: LHX3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PROP1 Ivone Leong gene: PROP1 was added
gene: PROP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CA12 Ivone Leong gene: CA12 was added
gene: CA12 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CA12 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AAAS Ivone Leong gene: AAAS was added
gene: AAAS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MCM4 Ivone Leong gene: MCM4 was added
gene: MCM4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 POR Ivone Leong gene: POR was added
gene: POR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP17A1 Ivone Leong gene: CYP17A1 was added
gene: CYP17A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SGPL1 Ivone Leong gene: SGPL1 was added
gene: SGPL1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NNT Ivone Leong gene: NNT was added
gene: NNT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MRAP Ivone Leong gene: MRAP was added
gene: MRAP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HSD3B2 Ivone Leong gene: HSD3B2 was added
gene: HSD3B2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP11A1 Ivone Leong gene: CYP11A1 was added
gene: CYP11A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 STAR Ivone Leong gene: STAR was added
gene: STAR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 POMC Ivone Leong gene: POMC was added
gene: POMC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TBX19 Ivone Leong gene: TBX19 was added
gene: TBX19 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MC2R Ivone Leong gene: MC2R was added
gene: MC2R was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP11B1 Ivone Leong gene: CYP11B1 was added
gene: CYP11B1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP21A2 Ivone Leong gene: CYP21A2 was added
gene: CYP21A2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IGF1 Ivone Leong gene: IGF1 was added
gene: IGF1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IGFALS Ivone Leong gene: IGFALS was added
gene: IGFALS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PKLR Ivone Leong gene: PKLR was added
gene: PKLR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TF Ivone Leong gene: TF was added
gene: TF was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HBA2 Ivone Leong gene: HBA2 was added
gene: HBA2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HBA1 Ivone Leong gene: HBA1 was added
gene: HBA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HBB Ivone Leong gene: HBB was added
gene: HBB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SMN1 Ivone Leong gene: SMN1 was added
gene: SMN1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GATM Ivone Leong gene: GATM was added
gene: GATM was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GAMT Ivone Leong gene: GAMT was added
gene: GAMT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PLG Ivone Leong gene: PLG was added
gene: PLG was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 F13B Ivone Leong gene: F13B was added
gene: F13B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 F13A1 Ivone Leong gene: F13A1 was added
gene: F13A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FGG Ivone Leong gene: FGG was added
gene: FGG was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FGB Ivone Leong gene: FGB was added
gene: FGB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FGA Ivone Leong gene: FGA was added
gene: FGA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FUCA1 Ivone Leong gene: FUCA1 was added
gene: FUCA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NPC2 Ivone Leong gene: NPC2 was added
gene: NPC2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NPC1 Ivone Leong gene: NPC1 was added
gene: NPC1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GUSB Ivone Leong gene: GUSB was added
gene: GUSB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NAGLU Ivone Leong gene: NAGLU was added
gene: NAGLU was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ARSB Ivone Leong gene: ARSB was added
gene: ARSB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GALNS Ivone Leong gene: GALNS was added
gene: GALNS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MAN2B1 Ivone Leong gene: MAN2B1 was added
gene: MAN2B1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SMPD1 Ivone Leong gene: SMPD1 was added
gene: SMPD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IDUA Ivone Leong gene: IDUA was added
gene: IDUA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GBA Ivone Leong gene: GBA was added
gene: GBA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TPP1 Ivone Leong gene: TPP1 was added
gene: TPP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC25A38 Ivone Leong gene: SLC25A38 was added
gene: SLC25A38 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TTPA Ivone Leong gene: TTPA was added
gene: TTPA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC25A19 Ivone Leong gene: SLC25A19 was added
gene: SLC25A19 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC19A3 Ivone Leong gene: SLC19A3 was added
gene: SLC19A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TPK1 Ivone Leong gene: TPK1 was added
gene: TPK1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ATP7A Ivone Leong gene: ATP7A was added
gene: ATP7A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ATP7B Ivone Leong gene: ATP7B was added
gene: ATP7B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 KDSR Ivone Leong gene: KDSR was added
gene: KDSR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC39A4 Ivone Leong gene: SLC39A4 was added
gene: SLC39A4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC34A3 Ivone Leong gene: SLC34A3 was added
gene: SLC34A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LIPA Ivone Leong gene: LIPA was added
gene: LIPA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC5A6 Ivone Leong gene: SLC5A6 was added
gene: SLC5A6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC52A3 Ivone Leong gene: SLC52A3 was added
gene: SLC52A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC52A2 Ivone Leong gene: SLC52A2 was added
gene: SLC52A2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CAD Ivone Leong gene: CAD was added
gene: CAD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TMEM165 Ivone Leong gene: TMEM165 was added
gene: TMEM165 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC39A8 Ivone Leong gene: SLC39A8 was added
gene: SLC39A8 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC35C1 Ivone Leong gene: SLC35C1 was added
gene: SLC35C1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PGM1 Ivone Leong gene: PGM1 was added
gene: PGM1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MPI Ivone Leong gene: MPI was added
gene: MPI was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MOCS1 Ivone Leong gene: MOCS1 was added
gene: MOCS1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC22A5 Ivone Leong gene: SLC22A5 was added
gene: SLC22A5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FECH Ivone Leong gene: FECH was added
gene: FECH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ALAD Ivone Leong gene: ALAD was added
gene: ALAD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CBS Ivone Leong gene: CBS was added
gene: CBS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC13A5 Ivone Leong gene: SLC13A5 was added
gene: SLC13A5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYB561 Ivone Leong gene: CYB561 was added
gene: CYB561 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYB561 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DBH Ivone Leong gene: DBH was added
gene: DBH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DBH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC18A2 Ivone Leong gene: SLC18A2 was added
gene: SLC18A2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DDC Ivone Leong gene: DDC was added
gene: DDC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DNAJC12 Ivone Leong gene: DNAJC12 was added
gene: DNAJC12 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 QDPR Ivone Leong gene: QDPR was added
gene: QDPR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PTS Ivone Leong gene: PTS was added
gene: PTS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SPR Ivone Leong gene: SPR was added
gene: SPR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TH Ivone Leong gene: TH was added
gene: TH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SCN4A Ivone Leong Mode of inheritance for gene SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC25A1 Ivone Leong gene: SLC25A1 was added
gene: SLC25A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MYO9A Ivone Leong gene: MYO9A was added
gene: MYO9A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 VAMP1 Ivone Leong gene: VAMP1 was added
gene: VAMP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DPAGT1 Ivone Leong gene: DPAGT1 was added
gene: DPAGT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RAPSN Ivone Leong gene: RAPSN was added
gene: RAPSN was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LRP4 Ivone Leong gene: LRP4 was added
gene: LRP4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COL13A1 Ivone Leong gene: COL13A1 was added
gene: COL13A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC18A3 Ivone Leong gene: SLC18A3 was added
gene: SLC18A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CHAT Ivone Leong gene: CHAT was added
gene: CHAT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MUSK Ivone Leong gene: MUSK was added
gene: MUSK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ALG2 Ivone Leong gene: ALG2 was added
gene: ALG2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DOK7 Ivone Leong gene: DOK7 was added
gene: DOK7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COLQ Ivone Leong gene: COLQ was added
gene: COLQ was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC5A7 Ivone Leong gene: SLC5A7 was added
gene: SLC5A7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GFPT1 Ivone Leong gene: GFPT1 was added
gene: GFPT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PREPL Ivone Leong gene: PREPL was added
gene: PREPL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ALG14 Ivone Leong gene: ALG14 was added
gene: ALG14 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AGRN Ivone Leong gene: AGRN was added
gene: AGRN was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C1QC Ivone Leong gene: C1QC was added
gene: C1QC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C1QB Ivone Leong gene: C1QB was added
gene: C1QB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C1QA Ivone Leong gene: C1QA was added
gene: C1QA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CFD Ivone Leong gene: CFD was added
gene: CFD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C9 Ivone Leong gene: C9 was added
gene: C9 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C6 Ivone Leong gene: C6 was added
gene: C6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C8B Ivone Leong gene: C8B was added
gene: C8B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C8A Ivone Leong gene: C8A was added
gene: C8A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C7 Ivone Leong gene: C7 was added
gene: C7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C5 Ivone Leong gene: C5 was added
gene: C5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C2 Ivone Leong gene: C2 was added
gene: C2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C3 Ivone Leong Mode of inheritance for gene C3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CFI Ivone Leong Mode of inheritance for gene CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CFB Ivone Leong Mode of inheritance for gene CFB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ADAMTS13 Ivone Leong gene: ADAMTS13 was added
gene: ADAMTS13 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ACAD9 Ivone Leong gene: ACAD9 was added
gene: ACAD9 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FLAD1 Ivone Leong gene: FLAD1 was added
gene: FLAD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ETFDH Ivone Leong gene: ETFDH was added
gene: ETFDH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ETFB Ivone Leong gene: ETFB was added
gene: ETFB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ETFA Ivone Leong gene: ETFA was added
gene: ETFA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HSD11B2 Ivone Leong gene: HSD11B2 was added
gene: HSD11B2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP11B2 Ivone Leong Mode of inheritance for gene CYP11B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SCNN1G Ivone Leong gene: SCNN1G was added
gene: SCNN1G was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SCNN1B Ivone Leong gene: SCNN1B was added
gene: SCNN1B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SCNN1A Ivone Leong gene: SCNN1A was added
gene: SCNN1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 C17orf62 Ivone Leong gene: C17orf62 was added
gene: C17orf62 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NCF4 Ivone Leong gene: NCF4 was added
gene: NCF4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NCF2 Ivone Leong gene: NCF2 was added
gene: NCF2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NCF1 Ivone Leong gene: NCF1 was added
gene: NCF1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYBA Ivone Leong gene: CYBA was added
gene: CYBA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MPL Ivone Leong gene: MPL was added
gene: MPL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ARSA Ivone Leong gene: ARSA was added
gene: ARSA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 UBE2T Ivone Leong gene: UBE2T was added
gene: UBE2T was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLX4 Ivone Leong gene: SLX4 was added
gene: SLX4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RFWD3 Ivone Leong gene: RFWD3 was added
gene: RFWD3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MAD2L2 Ivone Leong gene: MAD2L2 was added
gene: MAD2L2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FANCL Ivone Leong gene: FANCL was added
gene: FANCL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ERCC4 Ivone Leong gene: ERCC4 was added
gene: ERCC4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FANCI Ivone Leong gene: FANCI was added
gene: FANCI was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FANCG Ivone Leong gene: FANCG was added
gene: FANCG was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FANCF Ivone Leong gene: FANCF was added
gene: FANCF was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FANCE Ivone Leong gene: FANCE was added
gene: FANCE was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FANCD2 Ivone Leong gene: FANCD2 was added
gene: FANCD2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FANCC Ivone Leong gene: FANCC was added
gene: FANCC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BRIP1 Ivone Leong gene: BRIP1 was added
gene: BRIP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BRCA2 Ivone Leong Mode of inheritance for gene BRCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FANCA Ivone Leong gene: FANCA was added
gene: FANCA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CTPS1 Ivone Leong gene: CTPS1 was added
gene: CTPS1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MYSM1 Ivone Leong gene: MYSM1 was added
gene: MYSM1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ADA2 Ivone Leong gene: ADA2 was added
gene: ADA2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL2RB Ivone Leong gene: IL2RB was added
gene: IL2RB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL2RA Ivone Leong gene: IL2RA was added
gene: IL2RA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IKBKB Ivone Leong gene: IKBKB was added
gene: IKBKB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RELB Ivone Leong gene: RELB was added
gene: RELB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SP110 Ivone Leong gene: SP110 was added
gene: SP110 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PAX1 Ivone Leong gene: PAX1 was added
gene: PAX1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ZAP70 Ivone Leong gene: ZAP70 was added
gene: ZAP70 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TTC7A Ivone Leong gene: TTC7A was added
gene: TTC7A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 STIM1 Ivone Leong gene: STIM1 was added
gene: STIM1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RMRP Ivone Leong gene: RMRP was added
gene: RMRP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PGM3 Ivone Leong gene: PGM3 was added
gene: PGM3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC46A1 Ivone Leong gene: SLC46A1 was added
gene: SLC46A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NBN Ivone Leong gene: NBN was added
gene: NBN was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MTHFD1 Ivone Leong gene: MTHFD1 was added
gene: MTHFD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LIG4 Ivone Leong gene: LIG4 was added
gene: LIG4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DOCK2 Ivone Leong gene: DOCK2 was added
gene: DOCK2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DOCK8 Ivone Leong gene: DOCK8 was added
gene: DOCK8 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RFXAP Ivone Leong gene: RFXAP was added
gene: RFXAP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RFX5 Ivone Leong gene: RFX5 was added
gene: RFX5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RFXANK Ivone Leong gene: RFXANK was added
gene: RFXANK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CIITA Ivone Leong gene: CIITA was added
gene: CIITA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CORO1A Ivone Leong gene: CORO1A was added
gene: CORO1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AK2 Ivone Leong gene: AK2 was added
gene: AK2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD247 Ivone Leong gene: CD247 was added
gene: CD247 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD3E Ivone Leong gene: CD3E was added
gene: CD3E was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD3D Ivone Leong gene: CD3D was added
gene: CD3D was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DCLRE1C Ivone Leong gene: DCLRE1C was added
gene: DCLRE1C was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RAG2 Ivone Leong gene: RAG2 was added
gene: RAG2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RAG1 Ivone Leong gene: RAG1 was added
gene: RAG1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ADA Ivone Leong gene: ADA was added
gene: ADA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PTPRC Ivone Leong gene: PTPRC was added
gene: PTPRC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL7R Ivone Leong gene: IL7R was added
gene: IL7R was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ORAI1 Ivone Leong gene: ORAI1 was added
gene: ORAI1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PRKDC Ivone Leong gene: PRKDC was added
gene: PRKDC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PNP Ivone Leong gene: PNP was added
gene: PNP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FOXN1 Ivone Leong gene: FOXN1 was added
gene: FOXN1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NHEJ1 Ivone Leong gene: NHEJ1 was added
gene: NHEJ1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LCK Ivone Leong gene: LCK was added
gene: LCK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LCK was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 JAK3 Ivone Leong gene: JAK3 was added
gene: JAK3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL10RA Ivone Leong gene: IL10RA was added
gene: IL10RA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL10RB Ivone Leong gene: IL10RB was added
gene: IL10RB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IL10 Ivone Leong gene: IL10 was added
gene: IL10 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IL10 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NKX2-2 Ivone Leong gene: NKX2-2 was added
gene: NKX2-2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MNX1 Ivone Leong gene: MNX1 was added
gene: MNX1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC19A2 Ivone Leong gene: SLC19A2 was added
gene: SLC19A2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NEUROG3 Ivone Leong gene: NEUROG3 was added
gene: NEUROG3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RFX6 Ivone Leong gene: RFX6 was added
gene: RFX6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GLIS3 Ivone Leong gene: GLIS3 was added
gene: GLIS3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 EIF2AK3 Ivone Leong gene: EIF2AK3 was added
gene: EIF2AK3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PTF1A Ivone Leong gene: PTF1A was added
gene: PTF1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 KCNJ11 Ivone Leong Mode of inheritance for gene KCNJ11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GCK Ivone Leong Mode of inheritance for gene GCK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PMM2 Ivone Leong gene: PMM2 was added
gene: PMM2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HADH Ivone Leong gene: HADH was added
gene: HADH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC25A15 Ivone Leong gene: SLC25A15 was added
gene: SLC25A15 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CPS1 Ivone Leong gene: CPS1 was added
gene: CPS1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ASS1 Ivone Leong gene: ASS1 was added
gene: ASS1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC25A13 Ivone Leong gene: SLC25A13 was added
gene: SLC25A13 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MLYCD Ivone Leong gene: MLYCD was added
gene: MLYCD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC25A20 Ivone Leong gene: SLC25A20 was added
gene: SLC25A20 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ACAT1 Ivone Leong gene: ACAT1 was added
gene: ACAT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 OXCT1 Ivone Leong gene: OXCT1 was added
gene: OXCT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HMGCS2 Ivone Leong gene: HMGCS2 was added
gene: HMGCS2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HMGCL Ivone Leong gene: HMGCL was added
gene: HMGCL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MCCC2 Ivone Leong gene: MCCC2 was added
gene: MCCC2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MCCC1 Ivone Leong gene: MCCC1 was added
gene: MCCC1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HADHB Ivone Leong gene: HADHB was added
gene: HADHB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HADHA Ivone Leong gene: HADHA was added
gene: HADHA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CPT1A Ivone Leong gene: CPT1A was added
gene: CPT1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ACADVL Ivone Leong gene: ACADVL was added
gene: ACADVL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TAT Ivone Leong gene: TAT was added
gene: TAT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FAH Ivone Leong gene: FAH was added
gene: FAH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CA5A Ivone Leong gene: CA5A was added
gene: CA5A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 NAGS Ivone Leong gene: NAGS was added
gene: NAGS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DHFR Ivone Leong gene: DHFR was added
gene: DHFR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MTHFR Ivone Leong gene: MTHFR was added
gene: MTHFR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MTHFS Ivone Leong gene: MTHFS was added
gene: MTHFS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC19A1 Ivone Leong gene: SLC19A1 was added
gene: SLC19A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FOLR1 Ivone Leong gene: FOLR1 was added
gene: FOLR1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HLCS Ivone Leong gene: HLCS was added
gene: HLCS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HOGA1 Ivone Leong gene: HOGA1 was added
gene: HOGA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GRHPR Ivone Leong gene: GRHPR was added
gene: GRHPR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AGXT Ivone Leong gene: AGXT was added
gene: AGXT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CAVIN1 Ivone Leong gene: CAVIN1 was added
gene: CAVIN1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CAV1 Ivone Leong gene: CAV1 was added
gene: CAV1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BSCL2 Ivone Leong gene: BSCL2 was added
gene: BSCL2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AGPAT2 Ivone Leong gene: AGPAT2 was added
gene: AGPAT2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PCSK1 Ivone Leong gene: PCSK1 was added
gene: PCSK1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LEPR Ivone Leong gene: LEPR was added
gene: LEPR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LEP Ivone Leong gene: LEP was added
gene: LEP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SAR1B Ivone Leong gene: SAR1B was added
gene: SAR1B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 APOB Ivone Leong Mode of inheritance for gene APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MTTP Ivone Leong gene: MTTP was added
gene: MTTP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DGAT1 Ivone Leong gene: DGAT1 was added
gene: DGAT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ABCC6 Ivone Leong gene: ABCC6 was added
gene: ABCC6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ENPP1 Ivone Leong gene: ENPP1 was added
gene: ENPP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CTNS Ivone Leong gene: CTNS was added
gene: CTNS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AMN Ivone Leong gene: AMN was added
gene: AMN was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CUBN Ivone Leong gene: CUBN was added
gene: CUBN was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GIF Ivone Leong gene: GIF was added
gene: GIF was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 TCN2 Ivone Leong gene: TCN2 was added
gene: TCN2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MTR Ivone Leong gene: MTR was added
gene: MTR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MTRR Ivone Leong gene: MTRR was added
gene: MTRR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CD320 Ivone Leong gene: CD320 was added
gene: CD320 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ABCD4 Ivone Leong gene: ABCD4 was added
gene: ABCD4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 LMBRD1 Ivone Leong gene: LMBRD1 was added
gene: LMBRD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ZNF143 Ivone Leong gene: ZNF143 was added
gene: ZNF143 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 THAP11 Ivone Leong gene: THAP11 was added
gene: THAP11 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 HCFC1 Ivone Leong gene: HCFC1 was added
gene: HCFC1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PRDX1 Ivone Leong gene: PRDX1 was added
gene: PRDX1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PRDX1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MCEE Ivone Leong gene: MCEE was added
gene: MCEE was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MMACHC Ivone Leong gene: MMACHC was added
gene: MMACHC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MMADHC Ivone Leong gene: MMADHC was added
gene: MMADHC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MMAB Ivone Leong gene: MMAB was added
gene: MMAB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MUT Ivone Leong gene: MUT was added
gene: MUT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 MMAA Ivone Leong gene: MMAA was added
gene: MMAA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PCCB Ivone Leong gene: PCCB was added
gene: PCCB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PCCA Ivone Leong gene: PCCA was added
gene: PCCA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PDSS2 Ivone Leong gene: PDSS2 was added
gene: PDSS2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PDSS1 Ivone Leong gene: PDSS1 was added
gene: PDSS1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COQ9 Ivone Leong gene: COQ9 was added
gene: COQ9 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COQ8B Ivone Leong gene: COQ8B was added
gene: COQ8B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COQ8A Ivone Leong gene: COQ8A was added
gene: COQ8A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COQ7 Ivone Leong gene: COQ7 was added
gene: COQ7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COQ6 Ivone Leong gene: COQ6 was added
gene: COQ6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 COQ4 Ivone Leong gene: COQ4 was added
gene: COQ4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC7A7 Ivone Leong gene: SLC7A7 was added
gene: SLC7A7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ASL Ivone Leong gene: ASL was added
gene: ASL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ARG1 Ivone Leong gene: ARG1 was added
gene: ARG1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BTD Ivone Leong gene: BTD was added
gene: BTD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ABCG8 Ivone Leong gene: ABCG8 was added
gene: ABCG8 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ABCG5 Ivone Leong gene: ABCG5 was added
gene: ABCG5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 RPE65 Ivone Leong gene: RPE65 was added
gene: RPE65 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CYP27A1 Ivone Leong gene: CYP27A1 was added
gene: CYP27A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC39A14 Ivone Leong gene: SLC39A14 was added
gene: SLC39A14 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC30A10 Ivone Leong gene: SLC30A10 was added
gene: SLC30A10 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PYGL Ivone Leong gene: PYGL was added
gene: PYGL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PHKG2 Ivone Leong gene: PHKG2 was added
gene: PHKG2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PHKB Ivone Leong gene: PHKB was added
gene: PHKB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 AGL Ivone Leong gene: AGL was added
gene: AGL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SLC37A4 Ivone Leong gene: SLC37A4 was added
gene: SLC37A4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 G6PC Ivone Leong gene: G6PC was added
gene: G6PC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ALDOB Ivone Leong gene: ALDOB was added
gene: ALDOB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 FBP1 Ivone Leong gene: FBP1 was added
gene: FBP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PSPH Ivone Leong gene: PSPH was added
gene: PSPH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PSAT1 Ivone Leong gene: PSAT1 was added
gene: PSAT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PHGDH Ivone Leong gene: PHGDH was added
gene: PHGDH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 OAT Ivone Leong gene: OAT was added
gene: OAT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 UMPS Ivone Leong gene: UMPS was added
gene: UMPS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GCDH Ivone Leong gene: GCDH was added
gene: GCDH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 IVD Ivone Leong gene: IVD was added
gene: IVD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BCKDK Ivone Leong gene: BCKDK was added
gene: BCKDK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BCKDHB Ivone Leong gene: BCKDHB was added
gene: BCKDHB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BCKDHA Ivone Leong gene: BCKDHA was added
gene: BCKDHA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 DBT Ivone Leong gene: DBT was added
gene: DBT was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 SERPINA1 Ivone Leong gene: SERPINA1 was added
gene: SERPINA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 CFTR Ivone Leong gene: CFTR was added
gene: CFTR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ALPL Ivone Leong gene: ALPL was added
gene: ALPL was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ALDH4A1 Ivone Leong gene: ALDH4A1 was added
gene: ALDH4A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GOT2 Ivone Leong gene: GOT2 was added
gene: GOT2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PNPO Ivone Leong gene: PNPO was added
gene: PNPO was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PLPBP Ivone Leong gene: PLPBP was added
gene: PLPBP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ALDH7A1 Ivone Leong gene: ALDH7A1 was added
gene: ALDH7A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 ACADM Ivone Leong gene: ACADM was added
gene: ACADM was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GALC Ivone Leong gene: GALC was added
gene: GALC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 GAA Ivone Leong gene: GAA was added
gene: GAA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 PAH Ivone Leong gene: PAH was added
gene: PAH was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
NewbornFullV1 v0.1 BMPR1A Ivone Leong gene: BMPR1A was added
gene: BMPR1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 EPCAM Ivone Leong gene: EPCAM was added
gene: EPCAM was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PMS2 Ivone Leong gene: PMS2 was added
gene: PMS2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 MSH6 Ivone Leong gene: MSH6 was added
gene: MSH6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 MSH2 Ivone Leong gene: MSH2 was added
gene: MSH2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 MLH1 Ivone Leong gene: MLH1 was added
gene: MLH1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 APOE Ivone Leong gene: APOE was added
gene: APOE was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 APOB Ivone Leong gene: APOB was added
gene: APOB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PCSK9 Ivone Leong gene: PCSK9 was added
gene: PCSK9 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 LDLR Ivone Leong gene: LDLR was added
gene: LDLR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PALB2 Ivone Leong gene: PALB2 was added
gene: PALB2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 BRCA2 Ivone Leong gene: BRCA2 was added
gene: BRCA2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 BRCA1 Ivone Leong gene: BRCA1 was added
gene: BRCA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SLC30A2 Ivone Leong gene: SLC30A2 was added
gene: SLC30A2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 UROD Ivone Leong gene: UROD was added
gene: UROD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PIK3CA Ivone Leong gene: PIK3CA was added
gene: PIK3CA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 LMNA Ivone Leong gene: LMNA was added
gene: LMNA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SMAD4 Ivone Leong gene: SMAD4 was added
gene: SMAD4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 IFIH1 Ivone Leong gene: IFIH1 was added
gene: IFIH1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 THRA Ivone Leong gene: THRA was added
gene: THRA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NKX2-1 Ivone Leong gene: NKX2-1 was added
gene: NKX2-1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PAX8 Ivone Leong gene: PAX8 was added
gene: PAX8 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PKD2 Ivone Leong gene: PKD2 was added
gene: PKD2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PKD1 Ivone Leong gene: PKD1 was added
gene: PKD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PDGFRB Ivone Leong gene: PDGFRB was added
gene: PDGFRB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NF1 Ivone Leong gene: NF1 was added
gene: NF1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SFTPC Ivone Leong gene: SFTPC was added
gene: SFTPC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 TNFAIP3 Ivone Leong gene: TNFAIP3 was added
gene: TNFAIP3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CARD14 Ivone Leong gene: CARD14 was added
gene: CARD14 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 TNFRSF1A Ivone Leong gene: TNFRSF1A was added
gene: TNFRSF1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NLRP12 Ivone Leong gene: NLRP12 was added
gene: NLRP12 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NLRP3 Ivone Leong gene: NLRP3 was added
gene: NLRP3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NLRC4 Ivone Leong gene: NLRC4 was added
gene: NLRC4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NOD2 Ivone Leong gene: NOD2 was added
gene: NOD2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 AVP Ivone Leong gene: AVP was added
gene: AVP was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 KCNA1 Ivone Leong gene: KCNA1 was added
gene: KCNA1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 FAM111A Ivone Leong gene: FAM111A was added
gene: FAM111A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 FXYD2 Ivone Leong gene: FXYD2 was added
gene: FXYD2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SLC40A1 Ivone Leong gene: SLC40A1 was added
gene: SLC40A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 GATA2 Ivone Leong gene: GATA2 was added
gene: GATA2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PSTPIP1 Ivone Leong gene: PSTPIP1 was added
gene: PSTPIP1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 STAT3 Ivone Leong gene: STAT3 was added
gene: STAT3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PLCG2 Ivone Leong gene: PLCG2 was added
gene: PLCG2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CTLA4 Ivone Leong gene: CTLA4 was added
gene: CTLA4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 IKZF1 Ivone Leong gene: IKZF1 was added
gene: IKZF1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 IRF2BP2 Ivone Leong gene: IRF2BP2 was added
gene: IRF2BP2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NFKB2 Ivone Leong gene: NFKB2 was added
gene: NFKB2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 TNFRSF13B Ivone Leong gene: TNFRSF13B was added
gene: TNFRSF13B was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TNFRSF13B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NFKB1 Ivone Leong gene: NFKB1 was added
gene: NFKB1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CXCR4 Ivone Leong gene: CXCR4 was added
gene: CXCR4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 GFI1 Ivone Leong gene: GFI1 was added
gene: GFI1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 ELANE Ivone Leong gene: ELANE was added
gene: ELANE was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SRP54 Ivone Leong gene: SRP54 was added
gene: SRP54 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SBDS Ivone Leong gene: SBDS was added
gene: SBDS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SBDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 GNAS Ivone Leong gene: GNAS was added
gene: GNAS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CUL3 Ivone Leong gene: CUL3 was added
gene: CUL3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 WNK4 Ivone Leong gene: WNK4 was added
gene: WNK4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 WNK1 Ivone Leong gene: WNK1 was added
gene: WNK1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: WNK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 LHX4 Ivone Leong gene: LHX4 was added
gene: LHX4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CDKN1C Ivone Leong gene: CDKN1C was added
gene: CDKN1C was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NR5A1 Ivone Leong gene: NR5A1 was added
gene: NR5A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RET Ivone Leong gene: RET was added
gene: RET was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 APC Ivone Leong gene: APC was added
gene: APC was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 TTR Ivone Leong gene: TTR was added
gene: TTR was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SLC1A3 Ivone Leong gene: SLC1A3 was added
gene: SLC1A3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CACNA1A Ivone Leong gene: CACNA1A was added
gene: CACNA1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CPOX Ivone Leong gene: CPOX was added
gene: CPOX was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PPOX Ivone Leong gene: PPOX was added
gene: PPOX was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 HMBS Ivone Leong gene: HMBS was added
gene: HMBS was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 TSC1 Ivone Leong gene: TSC1 was added
gene: TSC1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 TSC2 Ivone Leong gene: TSC2 was added
gene: TSC2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CACNA1S Ivone Leong gene: CACNA1S was added
gene: CACNA1S was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SCN4A Ivone Leong gene: SCN4A was added
gene: SCN4A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SNAP25 Ivone Leong gene: SNAP25 was added
gene: SNAP25 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SYT2 Ivone Leong gene: SYT2 was added
gene: SYT2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SYT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SCN8A Ivone Leong gene: SCN8A was added
gene: SCN8A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SCN2A Ivone Leong gene: SCN2A was added
gene: SCN2A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SCN1A Ivone Leong gene: SCN1A was added
gene: SCN1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PRRT2 Ivone Leong gene: PRRT2 was added
gene: PRRT2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 KCNT1 Ivone Leong gene: KCNT1 was added
gene: KCNT1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 GRIN2A Ivone Leong gene: GRIN2A was added
gene: GRIN2A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 KCNQ2 Ivone Leong gene: KCNQ2 was added
gene: KCNQ2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 C3 Ivone Leong gene: C3 was added
gene: C3 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: C3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CFI Ivone Leong gene: CFI was added
gene: CFI was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CFB Ivone Leong gene: CFB was added
gene: CFB was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 THBD Ivone Leong gene: THBD was added
gene: THBD was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SCN3A Ivone Leong gene: SCN3A was added
gene: SCN3A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CACNA1D Ivone Leong gene: CACNA1D was added
gene: CACNA1D was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CACNA1H Ivone Leong gene: CACNA1H was added
gene: CACNA1H was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 KCNJ5 Ivone Leong gene: KCNJ5 was added
gene: KCNJ5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CLCN2 Ivone Leong gene: CLCN2 was added
gene: CLCN2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CYP11B2 Ivone Leong gene: CYP11B2 was added
gene: CYP11B2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NR3C2 Ivone Leong gene: NR3C2 was added
gene: NR3C2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 MECOM Ivone Leong gene: MECOM was added
gene: MECOM was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 HOXA11 Ivone Leong gene: HOXA11 was added
gene: HOXA11 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS29 Ivone Leong gene: RPS29 was added
gene: RPS29 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS28 Ivone Leong gene: RPS28 was added
gene: RPS28 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS27 Ivone Leong gene: RPS27 was added
gene: RPS27 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS15A Ivone Leong gene: RPS15A was added
gene: RPS15A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS7 Ivone Leong gene: RPS7 was added
gene: RPS7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL35 Ivone Leong gene: RPL35 was added
gene: RPL35 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL31 Ivone Leong gene: RPL31 was added
gene: RPL31 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL27 Ivone Leong gene: RPL27 was added
gene: RPL27 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL26 Ivone Leong gene: RPL26 was added
gene: RPL26 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL18 Ivone Leong gene: RPL18 was added
gene: RPL18 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL15 Ivone Leong gene: RPL15 was added
gene: RPL15 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS26 Ivone Leong gene: RPS26 was added
gene: RPS26 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS24 Ivone Leong gene: RPS24 was added
gene: RPS24 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS17 Ivone Leong gene: RPS17 was added
gene: RPS17 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS10 Ivone Leong gene: RPS10 was added
gene: RPS10 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL35A Ivone Leong gene: RPL35A was added
gene: RPL35A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL11 Ivone Leong gene: RPL11 was added
gene: RPL11 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPL5 Ivone Leong gene: RPL5 was added
gene: RPL5 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 RPS19 Ivone Leong gene: RPS19 was added
gene: RPS19 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SAMD9L Ivone Leong gene: SAMD9L was added
gene: SAMD9L was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SMAD9 Ivone Leong gene: SMAD9 was added
gene: SMAD9 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 NFKBIA Ivone Leong gene: NFKBIA was added
gene: NFKBIA was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 CHD7 Ivone Leong gene: CHD7 was added
gene: CHD7 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 KCNJ8 Ivone Leong gene: KCNJ8 was added
gene: KCNJ8 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 ABCC9 Ivone Leong gene: ABCC9 was added
gene: ABCC9 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PAX4 Ivone Leong gene: PAX4 was added
gene: PAX4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 GATA6 Ivone Leong gene: GATA6 was added
gene: GATA6 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 GATA4 Ivone Leong gene: GATA4 was added
gene: GATA4 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 PDX1 Ivone Leong gene: PDX1 was added
gene: PDX1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: PDX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 KCNJ11 Ivone Leong gene: KCNJ11 was added
gene: KCNJ11 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 GCK Ivone Leong gene: GCK was added
gene: GCK was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 FOXA2 Ivone Leong gene: FOXA2 was added
gene: FOXA2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 UCP2 Ivone Leong gene: UCP2 was added
gene: UCP2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SLC16A1 Ivone Leong gene: SLC16A1 was added
gene: SLC16A1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 HNF4A Ivone Leong gene: HNF4A was added
gene: HNF4A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 HNF1A Ivone Leong gene: HNF1A was added
gene: HNF1A was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 HK1 Ivone Leong gene: HK1 was added
gene: HK1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 GLUD1 Ivone Leong gene: GLUD1 was added
gene: GLUD1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SPTLC2 Ivone Leong gene: SPTLC2 was added
gene: SPTLC2 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.1 SPTLC1 Ivone Leong gene: SPTLC1 was added
gene: SPTLC1 was added to NewbornFullV1. Sources: Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NewbornFullV1 v0.0 Ivone Leong Added Panel NewbornFullV1
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
Bleeding and platelet disorders v1.25 Eleanor Williams Panel version 1.24 has been signed off on 2021-08-18
Bleeding and platelet disorders v1.24 ABCG5 Eleanor Williams Classified gene: ABCG5 as Amber List (moderate evidence)
Bleeding and platelet disorders v1.24 ABCG5 Eleanor Williams Gene: abcg5 has been classified as Amber List (Moderate Evidence).
Amyloidosis v1.14 Eleanor Williams Panel version 1.13 has been signed off on 2021-08-18
Amyloidosis v1.13 TTR Eleanor Williams Classified gene: TTR as Amber List (moderate evidence)
Amyloidosis v1.13 TTR Eleanor Williams Gene: ttr has been classified as Amber List (Moderate Evidence).
Amyloidosis v1.12 Eleanor Williams Panel signed off version 1.10 has been removed
Amyloidosis v1.11 Eleanor Williams Panel version 1.10 has been signed off on 2021-08-12
Amyloidosis v1.10 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease
Common craniosynostosis syndromes v1.15 Eleanor Williams Panel version 1.14 has been signed off on 2021-08-12
Common craniosynostosis syndromes v1.14 TWIST1 Eleanor Williams Classified gene: TWIST1 as Amber List (moderate evidence)
Common craniosynostosis syndromes v1.14 TWIST1 Eleanor Williams Gene: twist1 has been classified as Amber List (Moderate Evidence).
Albinism or congenital nystagmus v1.19 Ivone Leong List of related panels changed from R39 to R39; Albinism or congenital nystagmus
Panel version 1.18 has been signed off on 2021-08-04
Breast cancer pertinent cancer susceptibility v1.2 Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Panel version 1.1 has been signed off on 2021-07-26
Ovarian cancer pertinent cancer susceptibility v1.6 Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Panel version 1.5 has been signed off on 2021-07-26
Brain cancer pertinent cancer susceptibility v1.1 Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Panel version 1.0 has been signed off on 2021-07-26
Breast cancer pertinent cancer susceptibility v1.1 PTEN Catherine Snow Classified gene: PTEN as Red List (low evidence)
Breast cancer pertinent cancer susceptibility v1.1 PTEN Catherine Snow Added comment: Comment on list classification: Comment on list classification: Rating red following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
Breast cancer pertinent cancer susceptibility v1.1 PTEN Catherine Snow Gene: pten has been classified as Red List (Low Evidence).
Ovarian cancer pertinent cancer susceptibility v1.5 BRIP1 Catherine Snow Classified gene: BRIP1 as Green List (high evidence)
Ovarian cancer pertinent cancer susceptibility v1.5 BRIP1 Catherine Snow Added comment: Comment on list classification: Rating Green following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
Ovarian cancer pertinent cancer susceptibility v1.5 BRIP1 Catherine Snow Gene: brip1 has been classified as Green List (High Evidence).
Ovarian cancer pertinent cancer susceptibility v1.4 BRIP1 Catherine Snow gene: BRIP1 was added
gene: BRIP1 was added to Ovarian cancer pertinent cancer susceptibility. Sources: Expert list
Mode of inheritance for gene: BRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ovarian cancer pertinent cancer susceptibility v1.3 PMS2 Catherine Snow Classified gene: PMS2 as Red List (low evidence)
Ovarian cancer pertinent cancer susceptibility v1.3 PMS2 Catherine Snow Added comment: Comment on list classification: Rating red following review by C Turnball (ICR) of predisposition panels for GMS phase 2 indications.
Ovarian cancer pertinent cancer susceptibility v1.3 PMS2 Catherine Snow Gene: pms2 has been classified as Red List (Low Evidence).
Ovarian cancer pertinent cancer susceptibility v1.2 MSH6 Catherine Snow Deleted their comment
Ovarian cancer pertinent cancer susceptibility v1.2 MSH6 Catherine Snow Classified gene: MSH6 as Green List (high evidence)
Ovarian cancer pertinent cancer susceptibility v1.2 MSH6 Catherine Snow Gene: msh6 has been classified as Green List (High Evidence).
Ovarian cancer pertinent cancer susceptibility v1.1 MSH6 Catherine Snow Classified gene: MSH6 as Red List (low evidence)
Ovarian cancer pertinent cancer susceptibility v1.1 MSH6 Catherine Snow Added comment: Comment on list classification: Rating Red by Clare Turnball (ICR) following review of cancer predisposition panels for GMS phase 2
Ovarian cancer pertinent cancer susceptibility v1.1 MSH6 Catherine Snow Gene: msh6 has been classified as Red List (Low Evidence).
Hereditary neuropathy NOT PMP22 copy number v1.26 Catherine Snow List of related panels changed from R78 to Hereditary neuropathy or pain disorder – NOT PMP22 copy number; R78
White matter disorders - adult onset v1.8 Catherine Snow List of related panels changed from R62 to Adult onset leukodystrophy; R62
Hereditary spastic paraplegia - adult onset v1.17 Catherine Snow List of related panels changed from R60 to Adult onset hereditary spastic paraplegia; R60
Neurodegenerative disorders - adult onset v2.43 Catherine Snow List of related panels changed from R58 to Adult onset neurodegenerative disorder; R58
Childhood onset dystonia or chorea or related movement disorder v1.84 Catherine Snow List of related panels changed from R57 to Childhood onset dystonia; chorea or related movement disorder; R57
Adult onset movement disorder v1.71 Catherine Snow List of related panels changed from R56 to Adult onset dystonia; chorea or related movement disorder; R56
Retinal disorders v2.173 Catherine Snow List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35 to Possible X-linked retinitis pigmentosa; Sorsby retinal dystrophy; Doyne retinal dystrophy; Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35
Cataracts v2.67 Catherine Snow List of related panels changed from R31 to Bilateral congenital or childhood onset cataracts; R31
Fetal anomalies v1.638 Eleanor Williams Panel version 1.637 has been signed off on 2021-06-30
Fetal anomalies v1.637 ACE Eleanor Williams Classified gene: ACE as Amber List (moderate evidence)
Fetal anomalies v1.637 ACE Eleanor Williams Added comment: Comment on list classification: demoting to amber and re signing off the panel again
Fetal anomalies v1.637 ACE Eleanor Williams Gene: ace has been classified as Amber List (Moderate Evidence).
Hearing loss v2.159 Eleanor Williams Panel version 2.158 has been signed off on 2021-06-29
Hearing loss v2.158 COCH Eleanor Williams Classified gene: COCH as Amber List (moderate evidence)
Hearing loss v2.158 COCH Eleanor Williams Added comment: Comment on list classification: changing to amber as a test
Hearing loss v2.158 COCH Eleanor Williams Gene: coch has been classified as Amber List (Moderate Evidence).
CuratorFeaturePanel6_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel6_L4
Set panel types to: Cancer Germline 100K
PanelForReviewer v0.0 Curator Test Added Panel PanelForReviewer
Set panel types to: Cancer Germline 100K
CuratorFeaturePanel5_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel5_L4
Set panel types to: Cancer Germline 100K
PanelForPublicUser v0.3 ISCA-37415-Loss1 Curator Test Region: ISCA-37415-Loss1 was added
Region: ISCA-37415-Loss1 was added to PanelForPublicUser. Sources: Emory Genetics Laboratory
missense tags were added to Region: ISCA-37415-Loss1.
Mode of inheritance for Region: ISCA-37415-Loss1 was set to MITOCHONDRIAL
Publications for Region: ISCA-37415-Loss1 were set to PMD234
Phenotypes for Region: ISCA-37415-Loss1 were set to Sampepheno
Penetrance for Region: ISCA-37415-Loss1 were set to Complete
Review for Region: ISCA-37415-Loss1 was set to GREEN
Region: ISCA-37415-Loss1 was marked as current diagnostic
Added comment: Commentetst
Sources: Emory Genetics Laboratory
CuratorFeaturePanel4_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel4_L4
Set panel types to: Cancer Germline 100K
PanelForPublicUser v0.2 CNBP_CCTG Curator Test STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to PanelForPublicUser. Sources: Emory Genetics Laboratory
missense tags were added to STR: CNBP_CCTG.
Mode of inheritance for STR: CNBP_CCTG was set to MITOCHONDRIAL
Publications for STR: CNBP_CCTG were set to PMD234
Phenotypes for STR: CNBP_CCTG were set to Sampepheno
Review for STR: CNBP_CCTG was set to GREEN
STR: CNBP_CCTG was marked as clinically relevant
STR: CNBP_CCTG was marked as current diagnostic
Added comment: STR added by Curator
Sources: Emory Genetics Laboratory
CuratorFeaturePanel3_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel3_L4
Set panel types to: Rare Disease 100K
PanelForEditSTR v0.1 POP1_CAG Curator Test STR: POP1_CAG was added
STR: POP1_CAG was added to PanelForEditSTR. Sources: Expert list
missense tags were added to STR: POP1_CAG.
Mode of inheritance for STR: POP1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: POP1_CAG were set to PMD234
Phenotypes for STR: POP1_CAG were set to Sampepheno
Review for STR: POP1_CAG was set to GREEN
STR: POP1_CAG was marked as clinically relevant
STR: POP1_CAG was marked as current diagnostic
Added comment: STR added by Curator but not added gene
Sources: Expert list
PanelForPublicUser v0.1 HGSNAT Curator Test gene: HGSNAT was added
gene: HGSNAT was added to PanelForPublicUser. Sources: UKGTN
watchlist tags were added to gene: HGSNAT.
Mode of inheritance for gene: HGSNAT was set to MITOCHONDRIAL
Publications for gene: HGSNAT were set to 1234
Phenotypes for gene: HGSNAT were set to Aniridia; Optic Nerve Malformations; Aniridia, 106210Peters anomaly
Penetrance for gene: HGSNAT were set to Complete
Review for gene: HGSNAT was set to GREEN
gene: HGSNAT was marked as current diagnostic
Added comment: Gene Comment by Curator
Sources: UKGTN
CuratorFeaturePanel2_L4 v0.0 Curator Test Added Panel CuratorFeaturePanel2_L4
Set panel types to: GMS Rare Disease Virtual
PanelForEditSTR v0.0 Curator Test Added Panel PanelForEditSTR
Set panel types to: Cancer Germline 100K
PanelForPublicUser v0.0 Curator Test Added Panel PanelForPublicUser
Set panel types to: Cancer Germline 100K
Aniridia v2.14 FOXC1 Eleanor Williams Mode of inheritance for gene: FOXC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Aniridia v2.13 FOXC1 Eleanor Williams Phenotypes for gene: FOXC1 were changed from Aniridia, MONDO:0019172 to Aniridia, MONDO:0019172; aniridia
Aniridia v2.12 FOXC1 Eleanor Williams Tag watchlist tag was added to gene: FOXC1.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Tag new-gene-name tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Tag new-gene-name was removed from gene: MT-ND6.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Tag new-gene-name tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Tag Q2_21_rating tag was added to gene: MT-ND6.
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Classified gene: MT-ND6 as Amber List (moderate evidence)
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Added comment: Comment on list classification: TEST
Albinism or congenital nystagmus v1.18 MT-ND6 Ivone Leong Gene: mt-nd6 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.103 DNA2 Arina Puzriakova Publications for gene: DNA2 were set to 24389050
RPanel_SignedOffVersion_L4 v0.3 Curator Test Panel version 0.2 has been signed off on 2021-02-17
RPanel_SignedOffVersion_L4 v0.2 Curator Test Panel version 0.1 has been signed off on 2021-02-16
RPanel_SignedOffVersion_L4 v0.1 Curator Test Panel version 0.0 has been signed off on 2021-02-15
RPanel_SignedOffVersion_L4 v0.0 Curator Test Added Panel RPanel_SignedOffVersion_L4
Set panel types to: Cancer Germline 100K
PPanel_SignedOffVersion_L4 v0.3 Curator Test Panel version 0.2 has been signed off on 2021-02-17
PPanel_SignedOffVersion_L4 v0.2 Curator Test Panel version 0.1 has been signed off on 2021-02-16
PPanel_SignedOffVersion_L4 v0.1 Curator Test Panel version 0.0 has been signed off on 2021-02-15
PPanel_SignedOffVersion_L4 v0.0 Curator Test Added Panel PPanel_SignedOffVersion_L4
Set panel types to: Cancer Germline 100K
Adult onset movement disorder v1.70 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.69 Curator Test Panel version 1.39 has been signed off on 2021-04-20
Adult onset movement disorder v1.68 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.67 Curator Test Panel version 1.39 has been signed off on 2021-04-20
Adult onset movement disorder v1.66 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.65 Curator Test Panel version 1.39 has been signed off on 2021-04-13
TestPanelApril2021 v0.0 Curator Test Added Panel TestPanelApril2021
Set panel types to: Cancer Germline 100K
Adult onset movement disorder v1.64 Curator Test Panel signed off version 1.39 has been removed
Amelogenesis imperfecta v2.9 ACP4 Eleanor Williams Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta to Amelogenesis imperfecta, type IJ, 617297; hypoplastic amelogenesis imperfecta
Publications for gene: ACP4 were updated from 28513613; 27843125 to 28513613; 27843125
Transcript for gene ACP4 was changed from None to ENST00000354571.5
TEST_OCT_2020_1 v1.0 Eleanor Williams promoted panel to version 1.0
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Marked gene: PRSS1 as ready
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Added comment: Comment when marking as ready: its ready
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Gene: prss1 has been classified as Amber List (Moderate Evidence).
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Classified gene: PRSS1 as Amber List (moderate evidence)
TEST_OCT_2020_1 v0.20 PRSS1 Eleanor Williams Gene: prss1 has been classified as Amber List (Moderate Evidence).
TEST_OCT_2020_1 v0.18 ACP4 Eleanor Williams gene: ACP4 was added
gene: ACP4 was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for gene: ACP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.17 BRCA1 Reviewer Test gene: BRCA1 was added
gene: BRCA1 was added to TEST_OCT_2020_1. Sources: Expert Review
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.17 ABAT Reviewer Test commented on gene: ABAT
TEST_OCT_2020_1 v0.17 ABAT Eleanor Williams Source UKGTN was added to ABAT.
TEST_OCT_2020_1 v0.16 ABAT Eleanor Williams Classified gene: ABAT as Amber List (moderate evidence)
TEST_OCT_2020_1 v0.16 ABAT Eleanor Williams Gene: abat has been classified as Amber List (Moderate Evidence).
TEST_OCT_2020_1 v0.15 ABAT Eleanor Williams commented on gene: ABAT: add another comment
TEST_OCT_2020_1 v0.15 ABAT Eleanor Williams Tag watchlist tag was added to gene: ABAT.
TEST_OCT_2020_1 v0.15 ISCA-37441-Loss Eleanor Williams commented on Region: ISCA-37441-Loss
TEST_OCT_2020_1 v0.15 ISCA-37441-Loss Eleanor Williams Region: ISCA-37441-Loss was added
Region: ISCA-37441-Loss was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.14 PRSS1 Eleanor Williams changed review comment from: add review; to: add review and change it
TEST_OCT_2020_1 v0.14 PRSS1_CAG Eleanor Williams commented on STR: PRSS1_CAG
TEST_OCT_2020_1 v0.14 PRSS1 Eleanor Williams commented on gene: PRSS1
TEST_OCT_2020_1 v0.14 PRSS1_CAG Eleanor Williams Classified STR: PRSS1_CAG as No list
TEST_OCT_2020_1 v0.14 PRSS1_CAG Eleanor Williams Str: prss1_cag has been removed from the panel.
TEST_OCT_2020_1 v0.13 PRSS1_CAG Eleanor Williams STR: PRSS1_CAG was added
STR: PRSS1_CAG was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for STR: PRSS1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.12 PRSS1 Eleanor Williams Classified gene: PRSS1 as No list
TEST_OCT_2020_1 v0.12 PRSS1 Eleanor Williams Gene: prss1 has been removed from the panel.
TEST_OCT_2020_1 v0.11 PRSS1 Eleanor Williams Phenotypes for gene: PRSS1 were changed from to Add a phenotype
TEST_OCT_2020_1 v0.10 PRSS1 Eleanor Williams gene: PRSS1 was added
gene: PRSS1 was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for gene: PRSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset movement disorder v1.63 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Panel544_545 v0.12 # Curator Test STR: # was added
STR: # was added to Panel544_545. Sources: Emory Genetics Laboratory
missense tags were added to STR: #.
Mode of inheritance for STR: # was set to MITOCHONDRIAL
Publications for STR: # were set to PMD234
Phenotypes for STR: # were set to Sampepheno
Review for STR: # was set to GREEN
STR: # was marked as clinically relevant
STR: # was marked as current diagnostic
Added comment: STR added by Curator
Sources: Emory Genetics Laboratory
Panel544_545 v0.11 Curator Test removed STR:@ from the panel
Panel544_545 v0.10 Curator Test removed STR:# from the panel
Panel544_545 v0.9 @ Curator Test STR: @ was added
STR: @ was added to Panel544_545. Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for STR: @ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Penetrance for STR: @ were set to unknown
Panel544_545 v0.8 # Curator Test STR: # was added
STR: # was added to Panel544_545. Sources: UKGTN
Mode of inheritance for STR: # was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Panel544_545 v0.7 Curator Test removed STR:# from the panel
Adult onset movement disorder v1.62 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.61 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.60 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.59 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.58 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.57 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.56 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.55 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.54 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.53 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.52 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.51 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Panel544_545 v0.6 # Curator Test Region: # was added
Region: # was added to Panel544_545. Sources: Emory Genetics Laboratory
missense tags were added to Region: #.
Mode of inheritance for Region: # was set to MITOCHONDRIAL
Publications for Region: # were set to PMD234
Phenotypes for Region: # were set to Sampepheno
Penetrance for Region: # were set to Complete
Review for Region: # was set to GREEN
Region: # was marked as current diagnostic
Added comment: Commentetst
Sources: Emory Genetics Laboratory
Panel544_545 v0.5 # Curator Test STR: # was added
STR: # was added to Panel544_545. Sources: Emory Genetics Laboratory
missense tags were added to STR: #.
Mode of inheritance for STR: # was set to MITOCHONDRIAL
Publications for STR: # were set to PMD234
Phenotypes for STR: # were set to Sampepheno
Review for STR: # was set to GREEN
STR: # was marked as clinically relevant
STR: # was marked as current diagnostic
Added comment: STR added by Curator
Sources: Emory Genetics Laboratory
Adult onset movement disorder v1.50 Curator Test Panel signed off version 1.39 has been removed
TestPanel v1.75 Eleanor Williams Panel status changed from internal to public
Adult onset movement disorder v1.49 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.48 Curator Test Panel signed off version 1.39 has been removed
Adult onset movement disorder v1.47 Curator Test Panel version 1.39 has been signed off on 2021-04-13
Adult onset movement disorder v1.46 Curator Test Panel version 1.3 has been signed off on 2020-04-15
Adult onset movement disorder v1.45 Curator Test Panel signed off version 1.3 has been removed
Adult onset movement disorder v1.44 Curator Test Panel version 1.3 has been signed off on 2020-04-15
TEST_OCT_2020_1 v0.9 ISCA-37390-Loss Reviewer Test Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to TEST_OCT_2020_1. Sources: Other
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 15635506
Phenotypes for Region: ISCA-37390-Loss were set to something
Review for Region: ISCA-37390-Loss was set to GREEN
Region: ISCA-37390-Loss was marked as current diagnostic
Added comment: comment
Sources: Other
TEST_OCT_2020_1 v0.9 AGA Eleanor Williams Classified gene: AGA as No list
TEST_OCT_2020_1 v0.9 AGA Eleanor Williams Gene: aga has been removed from the panel.
TEST_OCT_2020_1 v0.8 Eleanor Williams Panel status changed from internal to public
Adult onset movement disorder v1.43 Curator Test Panel signed off version 1.3 has been removed
Adult onset movement disorder v1.42 Curator Test Panel version 1.3 has been signed off on 2020-04-15
Intellectual disability v3.991 ZNF335 Catherine Snow Source Expert Review Red was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ZNF148 Catherine Snow Source Expert Review Red was added to ZNF148.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ZFP57 Catherine Snow Source Expert Review Red was added to ZFP57.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ZC3H14 Catherine Snow Source Expert Review Red was added to ZC3H14.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 XPA Catherine Snow Source Expert Review Red was added to XPA.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 USP27X Catherine Snow Source Expert Review Red was added to USP27X.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 UPB1 Catherine Snow Source Expert Review Red was added to UPB1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TWIST2 Catherine Snow Source Expert Review Red was added to TWIST2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TUBGCP4 Catherine Snow Source Expert Review Red was added to TUBGCP4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TRMT1 Catherine Snow Source Expert Review Red was added to TRMT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TRAPPC11 Catherine Snow Source Expert Review Red was added to TRAPPC11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TMEM231 Catherine Snow Source Expert Review Red was added to TMEM231.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 THRB Catherine Snow Source Expert Review Red was added to THRB.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TERT Catherine Snow Source Expert Review Red was added to TERT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 TBX1 Catherine Snow Source Expert Review Red was added to TBX1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 STT3A Catherine Snow Source Expert Review Red was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 STRADA Catherine Snow Source Expert Review Red was added to STRADA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SRGAP3 Catherine Snow Source Expert Review Red was added to SRGAP3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 SNORD118 Catherine Snow Source Expert Review Red was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 SMARCD2 Catherine Snow Source Expert Review Red was added to SMARCD2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 SET Catherine Snow Source Expert Review Red was added to SET.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 RTN4IP1 Catherine Snow Source Expert Review Red was added to RTN4IP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PSMB8 Catherine Snow Source Expert Review Red was added to PSMB8.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 PNPO Catherine Snow Source Expert Review Red was added to PNPO.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 NUP62 Catherine Snow Source Expert Review Red was added to NUP62.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 NAGS Catherine Snow Source Expert Review Red was added to NAGS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 LRP5 Catherine Snow Source Expert Review Red was added to LRP5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 IL1RAPL2 Catherine Snow Source Expert Review Red was added to IL1RAPL2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 FAAH2 Catherine Snow Source Expert Review Red was added to FAAH2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 FA2H Catherine Snow Source Expert Review Red was added to FA2H.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ERMARD Catherine Snow Source Expert Review Red was added to ERMARD.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ERLIN2 Catherine Snow Source Expert Review Red was added to ERLIN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 EPB41L1 Catherine Snow Source Expert Review Red was added to EPB41L1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 EEF1B2 Catherine Snow Source Expert Review Red was added to EEF1B2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DPM3 Catherine Snow Source Expert Review Red was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DOCK6 Catherine Snow Source Expert Review Red was added to DOCK6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DLG4 Catherine Snow Source Expert Review Red was added to DLG4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DLG2 Catherine Snow Source Expert Review Red was added to DLG2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DLG1 Catherine Snow Source Expert Review Red was added to DLG1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DLAT Catherine Snow Source Expert Review Red was added to DLAT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DIP2B Catherine Snow Source Expert Review Red was added to DIP2B.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DENND5A Catherine Snow Source Expert Review Red was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 DDX53 Catherine Snow Source Expert Review Red was added to DDX53.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 CYP7B1 Catherine Snow Source Expert Review Red was added to CYP7B1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 CYP27A1 Catherine Snow Source Expert Review Red was added to CYP27A1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 CRBN Catherine Snow Source Expert Review Red was added to CRBN.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ASH1L Catherine Snow Source Expert Review Red was added to ASH1L.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ARL14EP Catherine Snow Source Expert Review Red was added to ARL14EP.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ALX4 Catherine Snow Source Expert Review Red was added to ALX4.
Mode of inheritance for gene ALX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 AKT1 Catherine Snow Source Expert Review Red was added to AKT1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ACVR1 Catherine Snow Source Expert Review Red was added to ACVR1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.991 ZSWIM6 Catherine Snow Source Expert Review Red was added to ZSWIM6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ZBTB18 Catherine Snow Source Expert Review Red was added to ZBTB18.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 WDR81 Catherine Snow Source Expert Review Red was added to WDR81.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 VAMP1 Catherine Snow Source Expert Review Red was added to VAMP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 UNC80 Catherine Snow Source Expert Review Red was added to UNC80.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 UBTF Catherine Snow Source Expert Review Red was added to UBTF.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 UBA5 Catherine Snow Source Expert Review Red was added to UBA5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TTC37 Catherine Snow Source Expert Review Red was added to TTC37.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TRMT10A Catherine Snow Source Expert Review Red was added to TRMT10A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TRIT1 Catherine Snow Source Expert Review Red was added to TRIT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TMTC3 Catherine Snow Source Expert Review Red was added to TMTC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TMEM240 Catherine Snow Source Expert Review Red was added to TMEM240.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 THOC6 Catherine Snow Source Expert Review Red was added to THOC6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 THOC2 Catherine Snow Source Expert Review Red was added to THOC2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TECPR2 Catherine Snow Source Expert Review Red was added to TECPR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TBCK Catherine Snow Source Expert Review Red was added to TBCK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 TAF1 Catherine Snow Source Expert Review Red was added to TAF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SZT2 Catherine Snow Source Expert Review Red was added to SZT2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 STAG1 Catherine Snow Source Expert Review Red was added to STAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ST3GAL5 Catherine Snow Source Expert Review Red was added to ST3GAL5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SPTBN2 Catherine Snow Source Expert Review Red was added to SPTBN2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SPART Catherine Snow Source Expert Review Red was added to SPART.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SMC3 Catherine Snow Source Expert Review Red was added to SMC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SMAD4 Catherine Snow Source Expert Review Red was added to SMAD4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SLC6A9 Catherine Snow Source Expert Review Red was added to SLC6A9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SLC33A1 Catherine Snow Source Expert Review Red was added to SLC33A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 SIN3A Catherine Snow Source Expert Review Red was added to SIN3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 RERE Catherine Snow Source Expert Review Red was added to RERE.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 RAC1 Catherine Snow Source Expert Review Red was added to RAC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PYCR1 Catherine Snow Source Expert Review Red was added to PYCR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PUF60 Catherine Snow Source Expert Review Red was added to PUF60.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PSMD12 Catherine Snow Source Expert Review Red was added to PSMD12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PRUNE1 Catherine Snow Source Expert Review Red was added to PRUNE1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PRKD1 Catherine Snow Source Expert Review Red was added to PRKD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PPP1CB Catherine Snow Source Expert Review Red was added to PPP1CB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PNPLA6 Catherine Snow Source Expert Review Red was added to PNPLA6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PLPBP Catherine Snow Source Expert Review Red was added to PLPBP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PLAA Catherine Snow Source Expert Review Red was added to PLAA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PGAP1 Catherine Snow Source Expert Review Red was added to PGAP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 PARN Catherine Snow Source Expert Review Red was added to PARN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 OPA3 Catherine Snow Source Expert Review Red was added to OPA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 NTRK1 Catherine Snow Source Expert Review Red was added to NTRK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 KIAA0586 Catherine Snow Source Expert Review Red was added to KIAA0586.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 KCNK9 Catherine Snow Source Expert Review Red was added to KCNK9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 KCNJ6 Catherine Snow Source Expert Review Red was added to KCNJ6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ITPR1 Catherine Snow Source Expert Review Red was added to ITPR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 GLIS3 Catherine Snow Source Expert Review Red was added to GLIS3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 FGF12 Catherine Snow Source Expert Review Red was added to FGF12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 EXTL3 Catherine Snow Source Expert Review Red was added to EXTL3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 EMX2 Catherine Snow Source Expert Review Red was added to EMX2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 EML1 Catherine Snow Source Expert Review Red was added to EML1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ELP2 Catherine Snow Source Expert Review Red was added to ELP2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DNAJC19 Catherine Snow Source Expert Review Red was added to DNAJC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DHX30 Catherine Snow Source Expert Review Red was added to DHX30.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 DAG1 Catherine Snow Source Expert Review Red was added to DAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 D2HGDH Catherine Snow Source Expert Review Red was added to D2HGDH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 CRADD Catherine Snow Source Expert Review Red was added to CRADD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 CDK13 Catherine Snow Source Expert Review Red was added to CDK13.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 BRPF1 Catherine Snow Source Expert Review Red was added to BRPF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ASXL2 Catherine Snow Source Expert Review Red was added to ASXL2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ASL Catherine Snow Source Expert Review Red was added to ASL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ARL13B Catherine Snow Source Expert Review Red was added to ARL13B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ARID2 Catherine Snow Source Expert Review Red was added to ARID2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 AP3B2 Catherine Snow Source Expert Review Red was added to AP3B2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 AP3B1 Catherine Snow Source Expert Review Red was added to AP3B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 AHI1 Catherine Snow Source Expert Review Red was added to AHI1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ADK Catherine Snow Source Expert Review Red was added to ADK.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v3.991 ACTL6A Catherine Snow Source Expert Review Red was added to ACTL6A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Limb disorders v2.39 FGFR1 Catherine Snow Classified gene: FGFR1 as Amber List (moderate evidence)
Limb disorders v2.39 FGFR1 Catherine Snow Gene: fgfr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.990 SBDS Sarah Leigh Phenotypes for gene: SBDS were changed from Shwachman-Bodian-Diamond syndrome, 260400 to Shwachman-Bodian-Diamond syndrome, OMIM:260400
Intellectual disability v3.989 MED27 Arina Puzriakova Classified gene: MED27 as Green List (high evidence)
Intellectual disability v3.989 MED27 Arina Puzriakova Gene: med27 has been classified as Green List (High Evidence).
Intellectual disability v3.989 AFF4 Eleanor Williams Mode of inheritance for gene: AFF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.988 MED27 Arina Puzriakova reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: None; Publications: 33443317; Phenotypes: Intellectual disability, Axial hypotonia, Spasticity, Dystonia, Cerebellar hypoplasia, Cataracts, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.27 SHANK3 Sarah Leigh Added comment: Comment on phenotypes: Phelan-McDermid syndrome 606232
Autism v0.27 SHANK3 Sarah Leigh Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome, Rett syndrome-like phenotype; DD/NDD, ASD, ID, EPS to Phelan-McDermid syndrome, Rett syndrome-like phenotype; DD/NDD, ASD, ID, EPS
Autism v0.26 CUX1 Catherine Snow Phenotypes for gene: CUX1 were changed from to autism
Autism v0.25 RIMS2 Arina Puzriakova Classified gene: RIMS2 as Amber List (moderate evidence)
Autism v0.25 RIMS2 Arina Puzriakova Gene: rims2 has been classified as Amber List (Moderate Evidence).
Autism v0.25 TRIP12 Eleanor Williams Classified gene: TRIP12 as Amber List (moderate evidence)
Autism v0.25 TRIP12 Eleanor Williams Gene: trip12 has been classified as Amber List (Moderate Evidence).
Autism v0.24 ARID1B Arina Puzriakova Phenotypes for gene: ARID1B were changed from Coffin-Siris syndrome; ASD, DD/NDD, EPS, ADHD, ID, EP to Autism
Autism v0.23 SHANK3 Sarah Leigh Added comment: Comment on mode of inheritance: for test
Autism v0.23 SHANK3 Sarah Leigh Mode of inheritance for gene: SHANK3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Autism v0.22 ARID1B Arina Puzriakova Publications for gene: ARID1B were set to 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
Autism v0.21 SHANK3 Sarah Leigh reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Autism v0.21 ARID1B Arina Puzriakova Publications for gene: ARID1B were set to 20212079; 26185613; 23042784; 24267887; 26166478; 25989142; 24090431; 24581740; 26167905; 23999528; 25294932
Intellectual disability v3.988 SURF1 Sarah Leigh Classified gene: SURF1 as Amber List (moderate evidence)
Intellectual disability v3.988 SURF1 Sarah Leigh Added comment: Comment on list classification: for test
Intellectual disability v3.988 SURF1 Sarah Leigh Gene: surf1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.987 SALL4 Sarah Leigh reviewed gene: SALL4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.987 SALL4 Sarah Leigh Phenotypes for gene: SALL4 were changed from Duane-radial ray syndrome, 607323; IVIC syndrome, 147750 to Duane-radial ray syndrome OMIM:607323; IVIC syndrome, 147750
Intellectual disability v3.986 ABCD4 Arina Puzriakova Publications for gene: ABCD4 were set to 22922874
Intellectual disability v3.986 CLP1 Eleanor Williams Mode of inheritance for gene: CLP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Intellectual disability v3.986 CLN8 Catherine Snow Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003; NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8) to Ceroid lipofuscinosis, neuronal, 8, 600143
Intellectual disability v3.985 CLN8 Catherine Snow Publications for gene: CLN8 were set to
Intellectual disability v3.985 SALL4 Sarah Leigh Mode of inheritance for gene: SALL4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.984 ABCD4 Arina Puzriakova Publications for gene: ABCD4 were set to
Intellectual disability v3.983 SALL4 Sarah Leigh Classified gene: SALL4 as Amber List (moderate evidence)
Intellectual disability v3.983 SALL4 Sarah Leigh Gene: sall4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.983 CRX Catherine Snow Classified gene: CRX as Amber List (moderate evidence)
Intellectual disability v3.983 CRX Catherine Snow Added comment: Comment on list classification: for ttest
Intellectual disability v3.983 CRX Catherine Snow Gene: crx has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.983 DPM1 Eleanor Williams Classified gene: DPM1 as Amber List (moderate evidence)
Intellectual disability v3.983 DPM1 Eleanor Williams Added comment: Comment on list classification: testing changing rating
Intellectual disability v3.983 DPM1 Eleanor Williams Gene: dpm1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.983 SALL4 Sarah Leigh Classified gene: SALL4 as Amber List (moderate evidence)
Intellectual disability v3.983 SALL4 Sarah Leigh Gene: sall4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.982 ABCD4 Arina Puzriakova Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type, 614857; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE; MAHCJ to Methylmalonic aciduria and homocystinuria, cblJ type, OMIM:614857
Adult onset movement disorder v1.41 Curator Test Panel signed off version 1.3 has been removed
Adult onset movement disorder v1.40 Curator Test Panel version 1.3 has been signed off on 2020-04-15
Cystic renal disease v3.88 Eleanor Williams Panel version 3.87 has been signed off on 2021-04-08
Cystic kidney disease v2.27 Eleanor Williams Panel version 2.26 has been signed off on 2021-04-08
Cystic kidney disease v2.26 ZIC3 Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
Cystic kidney disease v2.26 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Cystic kidney disease v2.25 ZIC3 Eleanor Williams gene: ZIC3 was added
gene: ZIC3 was added to Cystic kidney disease. Sources: Literature
Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off versions
Added comment: Gene added to create a signed off version with different gene content.
Sources: Literature
Sarcoma susceptibility v1.75 Eleanor Williams Panel version 1.74 has been signed off on 2021-04-08
Sarcoma susceptibility v1.74 ZIC3 Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
Sarcoma susceptibility v1.74 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Sarcoma susceptibility v1.73 ZIC3 Eleanor Williams gene: ZIC3 was added
gene: ZIC3 was added to Sarcoma susceptibility. Sources: Literature
Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off versions
Added comment: Gene added to create a signed off version with different gene content.
Sources: Literature
Adult onset movement disorder v1.39 Eleanor Williams Panel version 1.38 has been signed off on 2021-04-08
Adult onset movement disorder v1.38 ZIC3 Eleanor Williams Classified gene: ZIC3 as Green List (high evidence)
Adult onset movement disorder v1.38 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Adult onset movement disorder v1.37 ZIC3 Eleanor Williams gene: ZIC3 was added
gene: ZIC3 was added to Adult onset movement disorder. Sources: Literature
Mode of inheritance for gene: ZIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC3 were set to Gene added as a test of signed off version
Added comment: Gene added to create a signed off version with different gene content.
Sources: Literature
Test MOI validation panel - do not edit v1.0 Eleanor Williams promoted panel to version 1.0
Test MOI validation panel - do not edit v0.91 Eleanor Williams Panel status changed from internal to public
Cystic renal disease v3.84 Eleanor Williams Panel version 3.83 has been signed off on 2021-04-06
Cystic renal disease v3.83 Eleanor Williams Panel signed off version 3.81 has been removed
Cystic renal disease v3.82 Eleanor Williams Panel version 3.81 has been signed off on 2021-03-06
Cystic kidney disease v2.24 Eleanor Williams Panel version 2.23 has been signed off on 2021-04-06
Renal ciliopathies v1.41 Eleanor Williams Panel version 1.40 has been signed off on 2021-04-06
Holoprosencephaly v2.15 Olegg Gerasimenko Panel version 2.10 has been signed off on 2021-04-01
Adult onset movement disorder v1.36 Ivone Leong Panel version 1.25 has been signed off on 2021-03-31
Adult onset movement disorder v1.35 Ivone Leong Panel version 1.20 has been signed off on 2021-03-31
Panel544_545 v0.4 AMELX Curator Test gene: AMELX was added
gene: AMELX was added to Panel544_545. Sources: Emory Genetics Laboratory
Mode of inheritance for gene: AMELX was set to MITOCHONDRIAL
Panel544_545 v0.3 Curator Test Panel version 0.2 has been signed off on 2021-03-30
Panel544_545 v0.2 Curator Test Panel version 0.1 has been signed off on 2021-03-30
Panel544_545 v0.1 Curator Test Panel version 0.0 has been signed off on 2021-03-30
Panel544_545 v0.0 Curator Test Added Panel Panel544_545
Set panel types to: Cancer Germline 100K
Growth failure in early childhood TEST v0.2 TRIM37 Ivone Leong reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mulibrey nanism; Mode of inheritance:
Growth failure in early childhood TEST v0.2 SRCAP Ivone Leong reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Floating Harbor; Mode of inheritance:
Growth failure in early childhood TEST v0.2 PLAG1 Ivone Leong reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
Growth failure in early childhood TEST v0.2 PIK3R1 Ivone Leong reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT; Mode of inheritance:
Growth failure in early childhood TEST v0.2 PCNT Ivone Leong reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOPDII; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ORC6 Ivone Leong reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ORC4 Ivone Leong reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ORC1 Ivone Leong reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 OBSL1 Ivone Leong reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
Growth failure in early childhood TEST v0.2 NBN Ivone Leong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen; Mode of inheritance:
Growth failure in early childhood TEST v0.2 IGF2 Ivone Leong reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
Growth failure in early childhood TEST v0.2 IGF1R Ivone Leong reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 15q-Del; Mode of inheritance:
Growth failure in early childhood TEST v0.2 IGF1 Ivone Leong reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: IGF1; Mode of inheritance:
Growth failure in early childhood TEST v0.2 HRAS Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello; Mode of inheritance:
Growth failure in early childhood TEST v0.2 HMGA2 Ivone Leong reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CUL7 Ivone Leong reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
Growth failure in early childhood TEST v0.2 COL1A1 Ivone Leong reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OI; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CDT1 Ivone Leong reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CDKN1C Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS/BWS; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CDC6 Ivone Leong reviewed gene: CDC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance:
Growth failure in early childhood TEST v0.2 CCDC8 Ivone Leong reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance:
Growth failure in early childhood TEST v0.2 BLM Ivone Leong reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ANKRD11 Ivone Leong reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: KBG; Mode of inheritance:
Growth failure in early childhood TEST v0.2 ACAN Ivone Leong reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Growth failure in early childhood TEST v0.1 TRIM37 Ivone Leong gene: TRIM37 was added
gene: TRIM37 was added to Growth failure in early childhood TEST. Sources: Expert Review Red
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism
Growth failure in early childhood TEST v0.1 SRCAP Ivone Leong gene: SRCAP was added
gene: SRCAP was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating Harbor
Growth failure in early childhood TEST v0.1 PLAG1 Ivone Leong gene: PLAG1 was added
gene: PLAG1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: PLAG1 was set to
Phenotypes for gene: PLAG1 were set to SRS
Growth failure in early childhood TEST v0.1 PIK3R1 Ivone Leong gene: PIK3R1 was added
gene: PIK3R1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT
Growth failure in early childhood TEST v0.1 PCNT Ivone Leong gene: PCNT was added
gene: PCNT was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to MOPDII
Growth failure in early childhood TEST v0.1 ORC6 Ivone Leong gene: ORC6 was added
gene: ORC6 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin
Growth failure in early childhood TEST v0.1 ORC4 Ivone Leong gene: ORC4 was added
gene: ORC4 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC4 were set to Meier-Gorlin
Growth failure in early childhood TEST v0.1 ORC1 Ivone Leong gene: ORC1 was added
gene: ORC1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin
Growth failure in early childhood TEST v0.1 OBSL1 Ivone Leong gene: OBSL1 was added
gene: OBSL1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3M
Growth failure in early childhood TEST v0.1 NBN Ivone Leong gene: NBN was added
gene: NBN was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen
Growth failure in early childhood TEST v0.1 IGF2 Ivone Leong gene: IGF2 was added
gene: IGF2 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: IGF2 were set to SRS
Growth failure in early childhood TEST v0.1 IGF1R Ivone Leong gene: IGF1R was added
gene: IGF1R was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to 15q-Del
Growth failure in early childhood TEST v0.1 IGF1 Ivone Leong gene: IGF1 was added
gene: IGF1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to IGF1
Growth failure in early childhood TEST v0.1 HRAS Ivone Leong gene: HRAS was added
gene: HRAS was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HRAS were set to Costello
Growth failure in early childhood TEST v0.1 HMGA2 Ivone Leong gene: HMGA2 was added
gene: HMGA2 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: HMGA2 was set to
Phenotypes for gene: HMGA2 were set to SRS
Growth failure in early childhood TEST v0.1 CUL7 Ivone Leong gene: CUL7 was added
gene: CUL7 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3M
Growth failure in early childhood TEST v0.1 COL1A1 Ivone Leong gene: COL1A1 was added
gene: COL1A1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to OI; Osteogenesis imperfecta, type III, 259420; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type I, 166200
Growth failure in early childhood TEST v0.1 CDT1 Ivone Leong gene: CDT1 was added
gene: CDT1 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin
Growth failure in early childhood TEST v0.1 CDKN1C Ivone Leong gene: CDKN1C was added
gene: CDKN1C was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to SRS/BWS; Beckwith-Wiedemann syndrome, 130650
Growth failure in early childhood TEST v0.1 CDC6 Ivone Leong gene: CDC6 was added
gene: CDC6 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC6 were set to ?Meier-Gorlin syndrome 5, 613805
Growth failure in early childhood TEST v0.1 CCDC8 Ivone Leong gene: CCDC8 was added
gene: CCDC8 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to 3M
Growth failure in early childhood TEST v0.1 BLM Ivone Leong gene: BLM was added
gene: BLM was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom
Growth failure in early childhood TEST v0.1 ANKRD11 Ivone Leong gene: ANKRD11 was added
gene: ANKRD11 was added to Growth failure in early childhood TEST. Sources: NHS GMS
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD11 were set to KBG
Growth failure in early childhood TEST v0.1 ACAN Ivone Leong gene: ACAN was added
gene: ACAN was added to Growth failure in early childhood TEST. Sources: Expert Review Green
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361; Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800
Growth failure in early childhood TEST v0.0 Ivone Leong Added Panel Growth failure in early childhood TEST
Superpanel_TEST v2.20 Ivone Leong Panel version 2.5 has been signed off on 2021-03-28
Superpanel_TEST v2.19 Ivone Leong Panel version 2.15 has been signed off on 2021-03-29
Short QT syndrome v2.13 ALG10 Ivone Leong Classified gene: ALG10 as Red List (low evidence)
Short QT syndrome v2.13 ALG10 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.13 ALG10 Ivone Leong Gene: alg10 has been classified as Red List (Low Evidence).
Short QT syndrome v2.12 ALG10 Ivone Leong Classified gene: ALG10 as Amber List (moderate evidence)
Short QT syndrome v2.12 ALG10 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.12 ALG10 Ivone Leong Gene: alg10 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v2.11 AKAP9 Ivone Leong Classified gene: AKAP9 as Red List (low evidence)
Short QT syndrome v2.11 AKAP9 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.11 AKAP9 Ivone Leong Gene: akap9 has been classified as Red List (Low Evidence).
Short QT syndrome v2.10 AKAP9 Ivone Leong Classified gene: AKAP9 as Amber List (moderate evidence)
Short QT syndrome v2.10 AKAP9 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.10 AKAP9 Ivone Leong Gene: akap9 has been classified as Amber List (Moderate Evidence).
Short QT syndrome v2.9 ABCC9 Ivone Leong Classified gene: ABCC9 as Red List (low evidence)
Short QT syndrome v2.9 ABCC9 Ivone Leong Gene: abcc9 has been classified as Red List (Low Evidence).
Short QT syndrome v2.8 ABCC9 Ivone Leong Classified gene: ABCC9 as Amber List (moderate evidence)
Short QT syndrome v2.8 ABCC9 Ivone Leong Added comment: Comment on list classification: TEST
Short QT syndrome v2.8 ABCC9 Ivone Leong Gene: abcc9 has been classified as Amber List (Moderate Evidence).
Superpanel_TEST v2.12 Ivone Leong Panel version 2.11 has been signed off on 2021-03-29
Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Classified gene: KCNE1 as Red List (low evidence)
Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.22 KCNE1 Ivone Leong Gene: kcne1 has been classified as Red List (Low Evidence).
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Classified gene: KCNE1 as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.21 KCNE1 Ivone Leong Gene: kcne1 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.28 KCNE3 Ivone Leong Classified gene: KCNE3 as Red List (low evidence)
Long QT syndrome v2.28 KCNE3 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.28 KCNE3 Ivone Leong Gene: kcne3 has been classified as Red List (Low Evidence).
Long QT syndrome v2.27 KCNE3 Ivone Leong Classified gene: KCNE3 as Amber List (moderate evidence)
Long QT syndrome v2.27 KCNE3 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.27 KCNE3 Ivone Leong Gene: kcne3 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.26 CAV3 Ivone Leong Classified gene: CAV3 as Red List (low evidence)
Long QT syndrome v2.26 CAV3 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.26 CAV3 Ivone Leong Gene: cav3 has been classified as Red List (Low Evidence).
Long QT syndrome v2.25 CAV3 Ivone Leong Classified gene: CAV3 as Amber List (moderate evidence)
Long QT syndrome v2.25 CAV3 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.25 CAV3 Ivone Leong Gene: cav3 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.24 AKAP9 Ivone Leong Classified gene: AKAP9 as Red List (low evidence)
Long QT syndrome v2.24 AKAP9 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.24 AKAP9 Ivone Leong Gene: akap9 has been classified as Red List (Low Evidence).
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Classified gene: ANK2 as Red List (low evidence)
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.20 ANK2 Ivone Leong Gene: ank2 has been classified as Red List (Low Evidence).
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Classified gene: ANK2 as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Added comment: Comment on list classification: TEST
Catecholaminergic polymorphic VT v2.19 ANK2 Ivone Leong Gene: ank2 has been classified as Amber List (Moderate Evidence).
Superpanel_TEST v2.2 Ivone Leong Panel version 2.1 has been signed off on 2021-03-01
Long QT syndrome v2.23 AKAP9 Ivone Leong Classified gene: AKAP9 as Amber List (moderate evidence)
Long QT syndrome v2.23 AKAP9 Ivone Leong Added comment: Comment on list classification: TEST
Long QT syndrome v2.23 AKAP9 Ivone Leong Gene: akap9 has been classified as Amber List (Moderate Evidence).
Long QT syndrome v2.22 ALG10 Ivone Leong Tag deletions tag was added to gene: ALG10.
Long QT syndrome v2.22 TECRL Ivone Leong Tag treatable tag was added to gene: TECRL.
Superpanel_TEST v2.0 Ivone Leong Added Panel Superpanel_TEST
Set child panels to: Long QT syndrome; Catecholaminergic polymorphic VT; Short QT syndrome
Set panel types to: GMS Rare Disease Virtual
Sarcoma susceptibility v1.72 Ivone Leong Panel version 1.11 has been signed off on 2021-03-17
Cardiac arrhythmias - additional genes v1.12 Ivone Leong Panel version 1.9 has been signed off on 2021-03-28
Sarcoma susceptibility v1.71 Ivone Leong Panel version 1.60 has been signed off on 2021-03-28
Sarcoma susceptibility v1.70 Ivone Leong Panel version 1.4 has been signed off on 2021-03-01
Hereditary neuropathy NOT PMP22 copy number v1.25 DHX9 Arina Puzriakova Classified gene: DHX9 as Red List (low evidence)
Hereditary neuropathy NOT PMP22 copy number v1.25 DHX9 Arina Puzriakova Added comment: Comment on list classification: Rating this gene as Red, but with a watchlist tag, until more evidence is available.
Hereditary neuropathy NOT PMP22 copy number v1.25 DHX9 Arina Puzriakova Gene: dhx9 has been classified as Red List (Low Evidence).
Hereditary neuropathy NOT PMP22 copy number v1.24 DHX9 Arina Puzriakova gene: DHX9 was added
gene: DHX9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Other
watchlist tags were added to gene: DHX9.
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DHX9 were set to Adult-onset axonal neuropathy
Added comment: Conference poster (Genomics of Rare Disease 2021) - 'DExH-box helicase 9 (DHX9) is a candidate hereditary axonal neuropathy gene' by Fatih et al, Baylor College of Medicine -

Report three unrelated individuals with adult-onset axonal neuropathy (age of onset: 41, 49, and 12 years old, respectively). Clinical features include limb weakness (3), muscle atrophy (2), diminished sensation in feet (2; plus in hands in 1 individual), ataxic gait (1), and painful neuropathy (1). All subjects exhibited neurogenic changes on EMG, and 2 cases also had normal or absent motor and sensory NCV.
Exome sequencing revealed distinct heterozygous variants in the DHX9 gene ([c.2537A>G, p.Asp846Gly]; [c.2510G>C, p.Arg837Thr]; [c.3763G>A, p.Ala1255Thr]). Segregation data was only available for one case, showing de novo occurrence. No functional data presented.

These variants have to be validated and currently DHX9 is deemed a candidate gene. No other publications in relation to this gene and phenotype are available in PubMed at this time.

Baylor College of Medicine POC: Dr. Daniel Calame, [email protected]
Sources: Other
Thrombophilia v1.18 PROZ Arina Puzriakova Phenotypes for gene: PROZ were changed from 614024 Protein Z deficiency to Protein Z deficiency, OMIM:614024
Thrombophilia v1.17 PROCR Arina Puzriakova Publications for gene: PROCR were set to
Thrombophilia v1.16 PLAT Arina Puzriakova Phenotypes for gene: PLAT were changed from 612348 Thrombophilia, due to decreased release of PLAT; 612348 Thrombophilia, familial, due to decreased release of PLAT to Thrombophilia, familial, due to decreased release of PLAT, OMIM:612348
Thrombophilia v1.15 THBD Arina Puzriakova Phenotypes for gene: THBD were changed from 614486 Thrombophilia due to thrombomodulin defect to Thrombophilia due to thrombomodulin defect, OMIM:614486
Thrombophilia v1.14 SERPIND1 Arina Puzriakova Phenotypes for gene: SERPIND1 were changed from 612356 Thrombophilia due to heparin cofactor II deficiency to Thrombophilia due to heparin cofactor II deficiency, OMIM:612356
Thrombophilia v1.13 SERPINC1 Arina Puzriakova Phenotypes for gene: SERPINC1 were changed from 613118 Thrombophilia due to antithrombin III deficiency to Thrombophilia due to antithrombin III deficiency, OMIM:613118
Thrombophilia v1.12 PROS1 Arina Puzriakova Phenotypes for gene: PROS1 were changed from 612336 Thrombophilia due to protein S deficiency, autosomal dominant; 614514 Thrombophilia due to protein S deficiency, autosomal recessive to Thrombophilia due to protein S deficiency, autosomal dominant, OMIM:612336; Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514
Adult onset movement disorder v1.34 C19orf12 Sarah Leigh Added comment: Comment on phenotypes: neurodegeneration with brain iron accumulation-4;mitochondrial membrane protein-associated neurodegeneration;Dystonia
Adult onset movement disorder v1.34 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from neurodegeneration with brain iron accumulation-4; mitochondrial membrane protein-associated neurodegeneration; Dystonia to ?Spastic paraplegia 43, autosomal recessive OMIM:615043; hereditary spastic paraplegia 43 MONDO:0014024; Neurodegeneration with brain iron accumulation 4 OMIM:614298; neurodegeneration with brain iron accumulation 4 MONDO:0013674
Adult onset movement disorder v1.33 ATP7B Sarah Leigh Phenotypes for gene: ATP7B were changed from Wilson disease 277900; Dystonia to Wilson disease OMIM:277900; Wilson disease MONDO:0010200
Adult onset movement disorder v1.32 ATP1A3 Sarah Leigh Phenotypes for gene: ATP1A3 were changed from CAPOS syndrome; rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; Dystonia-12 to Alternating hemiplegia of childhood 2 OMIM:614820; alternating hemiplegia of childhood 2 MONDO:0013900; CAPOS syndrome OMIM:601338; cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038; Dystonia-12 OMIM:128235; dystonia 12 MONDO:0007496
Adult onset movement disorder v1.31 ATP1A2 Sarah Leigh Phenotypes for gene: ATP1A2 were changed from familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481; alternating hemiplegia of childhood 104290 to familial basilar migraine OMIM:602481; familial hemiplegic migraine type 2 OMIM:602481; migraine, familial hemiplegic, 2 MONDO:0011232; alternating hemiplegia of childhood OMIM:104290; alternating hemiplegia of childhood 1 MONDO:0007087
Hypogonadotropic hypogonadism idiopathic v1.30 KLB Ivone Leong Classified gene: KLB as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.30 KLB Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype. This gene is Green on the Hypogonadotropic hypogonadism (Version 1.29) panel and have the following review:

"Rachel Jones (GSTT)

Green List (high evidence)

Publication by Pitteloud et al:
"Genetic screening of 334 CHH patients identified seven heterozygous loss‐of‐function KLB mutations in 13 patients (4%). Most patients with KLB mutations (9/13) exhibited metabolic defects. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21."
They also included functional analysis and showed decreased activity in response to FGF21 and FGF8
KLB is an obligate coreceptor for FGF21 alongside FGFR1
Created: 10 Mar 2020, 10:55 a.m. | Last Modified: 10 Mar 2020, 10:55 a.m.
Panel Version: 1.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypogonadotrophic hypogonadism

Publications

PMID: 28754744

Created: 10 Mar 2020, 10:55 a.m.
Last Modified: 10 Mar 2020, 10:55 a.m.
Panel version: 1.27"

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hypogonadotropic hypogonadism idiopathic v1.30 KLB Ivone Leong Gene: klb has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v1.30 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb Syndrome to Kufor-Rakeb Syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
Hypogonadotropic hypogonadism idiopathic v1.29 KLB Ivone Leong Tag Q2_21_rating tag was added to gene: KLB.
Adult onset movement disorder v1.29 ATM Sarah Leigh Phenotypes for gene: ATM were changed from Ataxia-telangiectasia OMIM:208900 to Ataxia-telangiectasia OMIM:208900; ataxia telangiectasia MONDO:0008840
Adult onset movement disorder v1.28 ATM Sarah Leigh Phenotypes for gene: ATM were changed from Dystonia; Ataxia telangiectasia to Ataxia-telangiectasia OMIM:208900
Hypogonadotropic hypogonadism idiopathic v1.29 KLB Ivone Leong Publications for gene: KLB were set to
Adult onset movement disorder v1.27 APTX Sarah Leigh Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920; ataxia with oculomotor apraxia type 1 MONDO:0008842
Hypogonadotropic hypogonadism idiopathic v1.28 SOX10 Ivone Leong Phenotypes for gene: SOX10 were changed from Waardenburg syndrome type 4C (OMIM 611584) to Waardenburg syndrome type 4C, OMIM:611584; Waardenburg syndrome, type 2E, with or without neurologic involvement, OMIM:611584; congenital hypogonadotropic hypogonadism, MONDO:0015770
Adult onset movement disorder v1.26 APTX Sarah Leigh Phenotypes for gene: APTX were changed from Dystonia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920
Adult onset movement disorder v1.25 ANO3 Sarah Leigh Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Hypogonadotropic hypogonadism idiopathic v1.27 SOX10 Ivone Leong Classified gene: SOX10 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.27 SOX10 Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 cases of SOX10 variants found in patients with Kallman syndrome. PMID: 33597923 and 33082981 describe 2 patients (Chinese and Japanese) with variants in SOX10 who has Waardenburg syndrome and Kallmann syndrome. Therefore, this gene should be Green on this panel.
Hypogonadotropic hypogonadism idiopathic v1.27 SOX10 Ivone Leong Gene: sox10 has been classified as Amber List (Moderate Evidence).
Adult onset movement disorder v1.24 ANO3 Sarah Leigh Added comment: Comment on publications: 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor;24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis
Adult onset movement disorder v1.24 ANO3 Sarah Leigh Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Adult onset movement disorder v1.23 ANO3 Sarah Leigh Phenotypes for gene: ANO3 were changed from familial form of cranio-cervical dystonia; Dystonia 24, 615034 to Dystonia 24 OMIM:615034; dystonia 24 MONDO:0014019
Adult onset movement disorder v1.22 AFG3L2 Sarah Leigh Phenotypes for gene: AFG3L2 were changed from Dystonia; Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246 to Spastic ataxia 5, autosomal recessive OMIM:614487; spastic ataxia 5 MONDO:0013776; Spinocerebellar ataxia 28 OMIM:610246; spinocerebellar ataxia type 28 MONDO:0012450
Hypogonadotropic hypogonadism idiopathic v1.26 SOX10 Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559; 30914325; 26228106; 24769923; 33082981
Hypogonadotropic hypogonadism idiopathic v1.25 SOX10 Ivone Leong Tag Q2_21_rating tag was added to gene: SOX10.
Hypogonadotropic hypogonadism idiopathic v1.25 SOX10 Ivone Leong Added comment: Comment on publications: More publications (30914325; 26228106; 24769923; 33082981) showing SOX10 variants found in patients affected by Kallman syndrome.
Hypogonadotropic hypogonadism idiopathic v1.25 SOX10 Ivone Leong Publications for gene: SOX10 were set to 23643381; 15004559
Hypogonadotropic hypogonadism idiopathic v1.24 NSMF Ivone Leong Classified gene: NSMF as Red List (low evidence)
Hypogonadotropic hypogonadism idiopathic v1.24 NSMF Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red as per my previous comment.
Hypogonadotropic hypogonadism idiopathic v1.24 NSMF Ivone Leong Gene: nsmf has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism idiopathic v1.23 NSMF Ivone Leong Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Hypogonadotropic hypogonadism idiopathic v1.22 NSMF Ivone Leong reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: 27803842; Phenotypes: ; Mode of inheritance: None
Adult onset movement disorder v1.21 ACTB Sarah Leigh Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, OMIM:607371; developmental malformations-deafness-dystonia syndrome MONDO:0011823; Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh edited their review of gene: VPS33A: Added comment: This gene has been tagged with: "Q2_21_expert_review" in order to seek the opinion of NHS experts on this gene, which has a founder variant together with supportive functional studies.; Changed rating: GREEN
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect in the Russian poputation. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.70 VPS33A Sarah Leigh Tag Q2_21_expert_review tag was added to gene: VPS33A.
Hypogonadotropic hypogonadism idiopathic v1.22 SOX10 Ivone Leong Publications for gene: SOX10 were set to
Undiagnosed metabolic disorders v1.449 GNE Sarah Leigh Phenotypes for gene: GNE were changed from UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Sialuria (Other lysosomal disorders); Nonaka myopathy 605820; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Inborn errors of metabolism v2.103 GNE Sarah Leigh Added comment: Comment on phenotypes: Nonaka myopathy 605820;Sialuria (Other lysosomal disorders);UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Inborn errors of metabolism v2.103 GNE Sarah Leigh Phenotypes for gene: GNE were changed from Nonaka myopathy 605820; Sialuria (Other lysosomal disorders); UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Lysosomal storage disorder v1.70 GNE Sarah Leigh Publications for gene: GNE were set to
Undiagnosed metabolic disorders v1.448 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inborn errors of metabolism v2.102 GNE Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inborn errors of metabolism v2.102 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v2.101 GNE Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
Lysosomal storage disorder v1.69 GNE Sarah Leigh Added comment: Comment on mode of inheritance: The phenotype for GNE in this panel should be changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lysosomal storage disorder v1.69 GNE Sarah Leigh Mode of inheritance for gene: GNE was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Lysosomal storage disorder v1.68 GNE Sarah Leigh Tag Q2_21_MOI tag was added to gene: GNE.
Genetic epilepsy syndromes v2.307 SLC7A6OS Sarah Leigh Added comment: Comment on phenotypes: Based on the phenotypic spectrum reported in PMID 33085104, this gene may be suitable for additional panels.
Genetic epilepsy syndromes v2.307 SLC7A6OS Sarah Leigh Phenotypes for gene: SLC7A6OS were changed from Progressive myoclonus epilepsy to Epilepsy, progressive myoclonic, 12 OMIM:619191
Hypogonadotropic hypogonadism idiopathic v1.21 NSMF Ivone Leong Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism type 9 (OMIM 614838) to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Hypogonadotropic hypogonadism idiopathic v1.20 NSMF Ivone Leong Publications for gene: NSMF were set to
Genetic epilepsy syndromes v2.306 SLC7A6OS Sarah Leigh changed review comment from: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two familes, shown to share common ancestors by haplotype analysis (PMID 33085104).; to: Comment on list classification: Not associated with relevant phenotype in OMIM or Gen2Phen. At least one variant reported in two families, shown to share common ancestors by haplotype analysis (PMID 33085104).
Rare genetic inflammatory skin disorders v1.38 ADAMTS2 Ivone Leong Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Rare genetic inflammatory skin disorders v1.37 ABCC6 Ivone Leong Phenotypes for gene: ABCC6 were changed from PSEUDOXANTHOMA ELASTICUM; PXE to PSEUDOXANTHOMA ELASTICUM, OMIM:264800; Pseudoxanthoma elasticum, forme fruste, OMIM:177850
Rare genetic inflammatory skin disorders v1.36 TREX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Chillblain lupus;AGS1, CHILBLAIN LUPUS 1;Aicardi-Goutieres syndrome;AICARDI-GOUTIERES SYNDROME 1;CHBL1
Rare genetic inflammatory skin disorders v1.36 TREX1 Ivone Leong Phenotypes for gene: TREX1 were changed from Chillblain lupus; AGS1, CHILBLAIN LUPUS 1; Aicardi-Goutieres syndrome; AICARDI-GOUTIERES SYNDROME 1; CHBL1 to Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750; Chilblain lupus, OMIM:610448
Rare genetic inflammatory skin disorders v1.35 TMEM173 Ivone Leong Phenotypes for gene: TMEM173 were changed from SAVI; STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; STING-associated vasculopathy to STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, OMIM:615934
Rare genetic inflammatory skin disorders v1.34 STAT3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
HyperIgE syndrome;ADMIO1;HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1;HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Rare genetic inflammatory skin disorders v1.34 STAT3 Ivone Leong Phenotypes for gene: STAT3 were changed from HyperIgE syndrome; ADMIO1; HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT to Hyper-IgE recurrent infection syndrome, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Rare genetic inflammatory skin disorders v1.33 SLC39A4 Ivone Leong Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica; ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ to Acrodermatitis enteropathica, OMIM:201100
Rare genetic inflammatory skin disorders v1.32 SH3PXD2B Ivone Leong Phenotypes for gene: SH3PXD2B were changed from Borrone dermato-cardio-skeletal syndrome; FTHS; FRANK-TER HAAR SYNDROME to FRANK-TER HAAR SYNDROME, OMIM:249420
Rare genetic inflammatory skin disorders v1.31 SAMHD1 Ivone Leong Phenotypes for gene: SAMHD1 were changed from Chillblain lupus; Aicardi-Goutieres syndrome; AGS5, CHILBLAIN LUPUS 2; AICARDI-GOUTIERES SYNDROME 5; CHBL2 to ?Chilblain lupus 2, OMIM:614415; AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
Rare genetic inflammatory skin disorders v1.30 RAG2 Ivone Leong Phenotypes for gene: RAG2 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
Rare genetic inflammatory skin disorders v1.29 RAG1 Ivone Leong Phenotypes for gene: RAG1 were changed from OMENN SYNDROME; Omenn syndrome to OMENN SYNDROME, OMIM:603554
Rare genetic inflammatory skin disorders v1.28 PSENEN Ivone Leong Phenotypes for gene: PSENEN were changed from ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736
Rare genetic inflammatory skin disorders v1.27 OSMR Ivone Leong Phenotypes for gene: OSMR were changed from Amyloidosis cutis; PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250
Rare genetic inflammatory skin disorders v1.26 NSDHL Ivone Leong Phenotypes for gene: NSDHL were changed from CHILD syndrome; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS to CHILD syndrome, OMIM:308050
Rare genetic inflammatory skin disorders v1.25 NOD2 Ivone Leong Phenotypes for gene: NOD2 were changed from Blau syndrome; BLAU SYNDROME; BLAUS to Blau syndrome, OMIM:186580
Rare genetic inflammatory skin disorders v1.24 NLRP3 Ivone Leong Phenotypes for gene: NLRP3 were changed from CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME; FCAS1 to CINCA SYNDROME, OMIM:607115
Rare genetic inflammatory skin disorders v1.23 NCSTN Ivone Leong Phenotypes for gene: NCSTN were changed from ACNINV1; ACNE INVERSA, FAMILIAL, 1 to ACNE INVERSA, FAMILIAL, 1, OMIM:142690
Rare genetic inflammatory skin disorders v1.22 MVD Ivone Leong Phenotypes for gene: MVD were changed from POROKERATOSIS 7, MULTIPLE TYPES; POROK7 to POROKERATOSIS 7, MULTIPLE TYPES, OMIM:614714
Rare genetic inflammatory skin disorders v1.21 KIT Ivone Leong Phenotypes for gene: KIT were changed from MASTOCYTOSIS, CUTANEOUS; Mast cell disease; Piebaldism; MASTC to MASTOCYTOSIS, CUTANEOUS, OMIM:154800; Piebaldism, OMIM:172800
Rare genetic inflammatory skin disorders v1.20 IL36RN Ivone Leong Phenotypes for gene: IL36RN were changed from PSORS14; PSORIASIS 14, PUSTULAR; Recurrent pustular psoriasis to PSORIASIS 14, PUSTULAR, OMIM:614204
Rare genetic inflammatory skin disorders v1.19 IL1RN Ivone Leong Phenotypes for gene: IL1RN were changed from OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP; Recurrent pustular psoriasis to OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS, OMIM:612852
Rare genetic inflammatory skin disorders v1.18 GJB4 Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Rare genetic inflammatory skin disorders v1.17 GJB3 Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratodermia variabilis et progressiva 1; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
Rare genetic inflammatory skin disorders v1.16 GJA1 Ivone Leong Phenotypes for gene: GJA1 were changed from PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, OMIM:617525
Rare genetic inflammatory skin disorders v1.15 FDPS Ivone Leong Phenotypes for gene: FDPS were changed from POROKERATOSIS 9, MULTIPLE TYPES to POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631
Rare genetic inflammatory skin disorders v1.14 EGFR Ivone Leong Phenotypes for gene: EGFR were changed from NISBD2; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 to INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MONDO:0014481
Rare genetic inflammatory skin disorders v1.13 DOCK8 Ivone Leong Phenotypes for gene: DOCK8 were changed from Hyper-IgE recurrent infection syndrome, autosomal recessive to Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700
Rare genetic inflammatory skin disorders v1.12 CARD9 Ivone Leong Phenotypes for gene: CARD9 were changed from Deep dermatophytosis to Deep dermatophytosis, MONDO:0018335
Rare genetic inflammatory skin disorders v1.11 CARD14 Ivone Leong Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris; susceptibility to psoriasis to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723
Rare genetic inflammatory skin disorders v1.10 CARD11 Ivone Leong Phenotypes for gene: CARD11 were changed from Immunodeficiency 11B with atopic dermatitis to Immunodeficiency 11B with atopic dermatitis, OMIM:617638
Rare genetic inflammatory skin disorders v1.9 AIRE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA;APS1
Rare genetic inflammatory skin disorders v1.9 AIRE Ivone Leong Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
Rare genetic inflammatory skin disorders v1.8 ADA2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
VAIHS (Polyarteritis nodosa);Polyarteritis nodosa;VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Rare genetic inflammatory skin disorders v1.8 ADA2 Ivone Leong Phenotypes for gene: ADA2 were changed from VAIHS (Polyarteritis nodosa); Polyarteritis nodosa; VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Multiple monogenic benign skin tumours v1.12 PMS2 Ivone Leong Phenotypes for gene: PMS2 were changed from Muir Torre to Muir-Torre syndrome, MONDO:0008018
Multiple monogenic benign skin tumours v1.11 MSH6 Ivone Leong Phenotypes for gene: MSH6 were changed from Muir-Torre syndrome to Muir-Torre syndrome, MONDO:0008018
Multiple monogenic benign skin tumours v1.10 MSH2 Ivone Leong Phenotypes for gene: MSH2 were changed from to Muir-Torre syndrome, OMIM:158320
Multiple monogenic benign skin tumours v1.9 MLH1 Ivone Leong Phenotypes for gene: MLH1 were changed from to Muir-Torre syndrome, OMIM:158320
Multiple monogenic benign skin tumours v1.8 LEMD3 Ivone Leong Phenotypes for gene: LEMD3 were changed from Osteopoikilosis with or without melorheostosis(166700); BUSCHKE-OLLENDORFF SYNDROME to Osteopoikilosis with or without melorheostosis, OMIM:166700; BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700
Multiple monogenic benign skin tumours v1.7 FLCN Ivone Leong Phenotypes for gene: FLCN were changed from Birt-Hogg-Dub syndrome to Birt-Hogg-Dub syndrome, OMIM:135150
Multiple monogenic benign skin tumours v1.6 CYLD Ivone Leong Phenotypes for gene: CYLD were changed from Familial cylindromatosis, Multiple familial trichoepitheliomas to Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606
Epidermolysis bullosa and congenital skin fragility v1.48 EGFR Ivone Leong Phenotypes for gene: EGFR were changed from to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Epidermolysis bullosa and congenital skin fragility v1.47 EGFR Ivone Leong Publications for gene: EGFR were set to
Epidermolysis bullosa and congenital skin fragility v1.46 DSG3 Ivone Leong Phenotypes for gene: DSG3 were changed from mucosal fragility to Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226
Epidermolysis bullosa and congenital skin fragility v1.45 DSC3 Ivone Leong Phenotypes for gene: DSC3 were changed from to ?Hypotrichosis and recurrent skin vesicles, OMIM:613102
Epidermolysis bullosa and congenital skin fragility v1.44 DSC3 Ivone Leong Publications for gene: DSC3 were set to
Epidermolysis bullosa and congenital skin fragility v1.43 CD151 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
[Blood group, Raph], 179620;Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.43 CD151 Ivone Leong Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa to Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
Epidermolysis bullosa and congenital skin fragility v1.42 ATP2A2 Ivone Leong Phenotypes for gene: ATP2A2 were changed from to Darier disease, OMIM:124200
Epidermolysis bullosa and congenital skin fragility v1.41 TGM5 Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome,MONDO:0012345
Epidermolysis bullosa and congenital skin fragility v1.40 TGM5 Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, 609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome
Epidermolysis bullosa and congenital skin fragility v1.39 SPINK5 Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500
Epidermolysis bullosa and congenital skin fragility v1.38 SPINK5 Ivone Leong Publications for gene: SPINK5 were set to
Epidermolysis bullosa and congenital skin fragility v1.37 SLC39A4 Ivone Leong Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, OMIM:201100
Epidermolysis bullosa and congenital skin fragility v1.36 SERPINB8 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;erythema HP:0010783;palmoplantar hyperkeratosis HP:0007530;Peeling skin syndrome 5, 617115;Ichthyosis HP:0008064;skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v1.36 SERPINB8 Ivone Leong Phenotypes for gene: SERPINB8 were changed from Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 5, OMIM:617115
Epidermolysis bullosa and congenital skin fragility v1.35 PLEC Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis Bullosa with Muscular Dystrophy;Epidermolysis bullosa simplex, Ogna type (AD), 131950;Epidermolysis Bullosa Simplex, Ogna Type;Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex with pyloric atresia (AR), 612138;Epidermolysis bullosa simplex including Ogna variant;Epidermolysis Bullosa Simplex With Muscular Dystrophy;Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis bullosa and congenital skin fragility v1.35 PLEC Ivone Leong Phenotypes for gene: PLEC were changed from Epidermolysis Bullosa with Muscular Dystrophy; Epidermolysis bullosa simplex, Ogna type (AD), 131950; Epidermolysis Bullosa Simplex, Ogna Type; Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex with pyloric atresia (AR), 612138; Epidermolysis bullosa simplex including Ogna variant; Epidermolysis Bullosa Simplex With Muscular Dystrophy; Epidermolysis Bullosa Simplex With Pyloric Atresia to Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138
Epidermolysis bullosa and congenital skin fragility v1.34 PKP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.34 PKP1 Ivone Leong Phenotypes for gene: PKP1 were changed from Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa to Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
Epidermolysis bullosa and congenital skin fragility v1.33 LAMC2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v1.33 LAMC2 Ivone Leong Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.32 LAMB3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v1.32 LAMB3 Ivone Leong Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.31 LAMA3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Shabbir syndrome;Epidermolysis bullosa, junctional, non-Herlitz type;Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate);Junctional Epidermolysis Bullosa;Epidermolysis bullosa, generalized atrophic benign, 226650;Laryngoonychocutaneous syndrome, 245660
Epidermolysis bullosa and congenital skin fragility v1.31 LAMA3 Ivone Leong Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Shabbir syndrome; Epidermolysis bullosa, junctional, non-Herlitz type; Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate); Junctional Epidermolysis Bullosa; Epidermolysis bullosa, generalized atrophic benign, 226650; Laryngoonychocutaneous syndrome, 245660 to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, generalized atrophic benign, OMIM:226650; Laryngoonychocutaneous syndrome, OMIM:245660
Epidermolysis bullosa and congenital skin fragility v1.30 KRT5 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis Bullosa Simplex, Dowling-Meara Type;Epidermolysis Bullosa Simplex;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex with mottled pigmentation, 131960;Epidermolysis Bullosa Simplex, Localized;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
Epidermolysis bullosa and congenital skin fragility v1.30 KRT5 Ivone Leong Phenotypes for gene: KRT5 were changed from Epidermolysis Bullosa Simplex, Dowling-Meara Type; Epidermolysis Bullosa Simplex; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex with mottled pigmentation, 131960; Epidermolysis Bullosa Simplex, Localized; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Epidermolysis bullosa simplex, Koebner type, OMIM:131900; Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960; Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
Epidermolysis bullosa and congenital skin fragility v1.29 KRT14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800;Dermatopathia pigmentosa reticularis (AD), 125595;Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000;Epidermolysis bullosa simplex, Koebner type (AD), 131900;Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760;Epidermolysis Bullosa Simplex, Generalized;Epidermolysis bullosa simplex, recessive 1 (AR), 601001;Epidermolysis Bullosa Simplex, Localized
Epidermolysis bullosa and congenital skin fragility v1.29 KRT14 Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800; Dermatopathia pigmentosa reticularis (AD), 125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000; Epidermolysis bullosa simplex, Koebner type (AD), 131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis bullosa simplex, recessive 1 (AR), 601001; Epidermolysis Bullosa Simplex, Localized to Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800; Dermatopathia pigmentosa reticularis (AD), OMIM:125595; Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000; Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900; Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760; Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001
Epidermolysis bullosa and congenital skin fragility v1.28 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from EHK; Epidermolytic hyperkeratosis, 113800 to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v1.27 KRT1 Ivone Leong Phenotypes for gene: KRT1 were changed from EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v1.26 KLHL24 Ivone Leong Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex (autosomal dominant) to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
Epidermolysis bullosa and congenital skin fragility v1.25 KLHL24 Ivone Leong Added comment: Comment on publications: Previous publications:
99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5;48(12):1508-1516. Am J Hum Genet. 2016 Dec 1;Nat Genet. 2016 Dec
Epidermolysis bullosa and congenital skin fragility v1.25 KLHL24 Ivone Leong Publications for gene: KLHL24 were set to 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5; 48(12):1508-1516. Am J Hum Genet. 2016 Dec 1; Nat Genet. 2016 Dec
Epidermolysis bullosa and congenital skin fragility v1.24 JUP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214
Epidermolysis bullosa and congenital skin fragility v1.24 JUP Ivone Leong Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex
Epidermolysis bullosa and congenital skin fragility v1.23 ITGB4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Epidermolysis bullosa, junctional, with pyloric atresia, 226730;Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa and congenital skin fragility v1.23 ITGB4 Ivone Leong Phenotypes for gene: ITGB4 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia to Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650; Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
Epidermolysis bullosa and congenital skin fragility v1.22 ITGA6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa with pyloric atresia;Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;generalised intermediate junctional Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.22 ITGA6 Ivone Leong Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
Epidermolysis bullosa and congenital skin fragility v1.21 ITGA3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Junctional Epidermolysis bullosa;Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Epidermolysis bullosa and congenital skin fragility v1.21 ITGA3 Ivone Leong Phenotypes for gene: ITGA3 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
Epidermolysis bullosa and congenital skin fragility v1.20 IKBKG Ivone Leong Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, OMIM:308300
Epidermolysis bullosa and congenital skin fragility v1.19 FLG2 Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM:618084
Epidermolysis bullosa and congenital skin fragility v1.18 FERMT1 Ivone Leong Phenotypes for gene: FERMT1 were changed from Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650 to Kindler syndrome, OMIM:173650
Epidermolysis bullosa and congenital skin fragility v1.17 EXPH5 Ivone Leong Phenotypes for gene: EXPH5 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex to Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028
Epidermolysis bullosa and congenital skin fragility v1.16 DST Ivone Leong Phenotypes for gene: DST were changed from Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425 to Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
Epidermolysis bullosa and congenital skin fragility v1.15 DSP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, lethal acantholytic, 609638;Severe generalised Epidermolysis bullosa simplex;Skin fragility-woolly hair syndrome,607655;Lethal acantholytic epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.15 DSP Ivone Leong Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa to Epidermolysis bullosa, lethal acantholytic, OMIM:609638
Epidermolysis bullosa and congenital skin fragility v1.14 DSG1 Ivone Leong Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
Epidermolysis bullosa and congenital skin fragility v1.13 CSTA Ivone Leong Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047
Epidermolysis bullosa and congenital skin fragility v1.12 CSTA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperhidrosis HP:0000975;Peeling skin HP:0040189;OMIM:607936;erythema HP:0010783;Peeling skin syndrome 4, 607936;palmoplantar hyperkeratosis HP:0007530;Hyperkeratosis HP:0000962;Erythroderma HP:0001019;Lichenification HP:0100725;Ichthyosis HP:0008064;skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v1.12 CSTA Ivone Leong Phenotypes for gene: CSTA were changed from Hyperhidrosis HP:0000975; Peeling skin HP:0040189; OMIM:607936; erythema HP:0010783; Peeling skin syndrome 4, 607936; palmoplantar hyperkeratosis HP:0007530; Hyperkeratosis HP:0000962; Erythroderma HP:0001019; Lichenification HP:0100725; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 4, OMIM:607936
Epidermolysis bullosa and congenital skin fragility v1.11 COL7A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa dystrophica (AD), 131750;Epidermolysis bullosa, pretibial (AR,AD), 131850;Epidermolysis bullosa dystrophica (AR), 226600;EBD, Bart type (AD), 132000;Dystrophic Epidermolysis Bullosa;Transient bullous of the newborn (AR,AD), 131705;EBD inversa (AR), 226600
Epidermolysis bullosa and congenital skin fragility v1.11 COL7A1 Ivone Leong Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica (AD), 131750; Epidermolysis bullosa, pretibial (AR,AD), 131850; Epidermolysis bullosa dystrophica (AR), 226600; EBD, Bart type (AD), 132000; Dystrophic Epidermolysis Bullosa; Transient bullous of the newborn (AR,AD), 131705; EBD inversa (AR), 226600 to Epidermolysis bullosa dystrophica (AD), OMIM:131750; Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850; Epidermolysis bullosa dystrophica (AR), OMIM:226600; EBD, Bart type (AD), OMIM:132000; Epidermolysis bullosa pruriginosa, OMIM:604129; Transient bullous of the newborn (AR,AD), OMIM:131705; EBD inversa (AR), OMIM:226600
Epidermolysis bullosa and congenital skin fragility v1.10 COL17A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa
Epidermolysis bullosa and congenital skin fragility v1.10 COL17A1 Ivone Leong Phenotypes for gene: COL17A1 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa to Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.9 CDSN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
OMIM:#270300;Peeling skin HP:0040189;erythema HP:0010783;Allergy HP:0012393;Peeling skin syndrome 1, 270300;Hyperkeratosis HP:0000962.;Generalised erythroderma HP:0001019;PSS1;Increased IgE level HP:0003212;Pruritus HP:0000989
Epidermolysis bullosa and congenital skin fragility v1.9 CDSN Ivone Leong Phenotypes for gene: CDSN were changed from OMIM:#270300; Peeling skin HP:0040189; erythema HP:0010783; Allergy HP:0012393; Peeling skin syndrome 1, 270300; Hyperkeratosis HP:0000962.; Generalised erythroderma HP:0001019; PSS1; Increased IgE level HP:0003212; Pruritus HP:0000989 to Peeling skin syndrome 1, OMIM:270300
Epidermolysis bullosa and congenital skin fragility v1.8 CDSN Ivone Leong Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404
Epidermolysis bullosa and congenital skin fragility v1.7 CAST Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;Leukonychia HP:0001820;OMIM:#616295;Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295;Punctate palmoplantar hyperkeratosis HP:0007530;Knuckle pads.;Cheilitis HP:0100825
Epidermolysis bullosa and congenital skin fragility v1.7 CAST Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin HP:0040189; Leukonychia HP:0001820; OMIM:#616295; Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295; Punctate palmoplantar hyperkeratosis HP:0007530; Knuckle pads.; Cheilitis HP:0100825 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Epidermolysis bullosa and congenital skin fragility v1.6 CAST Ivone Leong Publications for gene: CAST were set to PMID: 25683118
Epidermolysis bullosa and congenital skin fragility v1.5 ATP2C1 Ivone Leong Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease, OMIM:169600
Osteopetrosis v1.26 TNFRSF11A Eleanor Williams Added comment: Comment on phenotypes: Removing Osteolysis, familial expansile OMIM:174810 as a phenotype as it doesn't seem to have a osteopetrosis type element.
Osteopetrosis v1.26 TNFRSF11A Eleanor Williams Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301 to {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301
Familial hypercholesterolaemia - targeted panel v1.9 GCKR Sarah Leigh gene: GCKR was added
gene: GCKR was added to Familial hypercholesterolaemia - targeted panel. Sources: Other
Mode of inheritance for gene: GCKR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GCKR were set to familial hypercholesterolemia MONDO:0005439
Review for gene: GCKR was set to RED
Added comment: Personal communication from Mafalda Bourbon, Head of the Cardiovascular Research Group, National Iinstitue of Health Dr Ricardo Jorge, Lisbon, Portugal: Two different heterozygous nonsense variants found in two FH patients, who were negative for variants in LDLR, APOB and PCSK9.
Sources: Other
Hypogonadotropic hypogonadism idiopathic v1.19 FGF17 Ivone Leong Phenotypes for gene: FGF17 were changed from Hypogonadotropic hypogonadism 20 with or without anosmia, MIM# 615270 to Hypogonadotropic hypogonadism 20 with or without anosmia, OMIM:615270
Hypogonadotropic hypogonadism idiopathic v1.18 TCF12 Ivone Leong Classified gene: TCF12 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.18 TCF12 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hypogonadotropic hypogonadism idiopathic v1.18 TCF12 Ivone Leong Gene: tcf12 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism idiopathic v1.17 TCF12 Ivone Leong Tag Q2_21_rating tag was added to gene: TCF12.
Hypogonadotropic hypogonadism idiopathic v1.17 TCF12 Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, 615314; Kallman syndrome to Craniosynostosis 3, 615314; Kallman syndrome, MONDO:0018800
Hypogonadotropic hypogonadism idiopathic v1.16 IGSF10 Ivone Leong Tag watchlist tag was added to gene: IGSF10.
Hypogonadotropic hypogonadism idiopathic v1.16 IGSF10 Ivone Leong Classified gene: IGSF10 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.16 IGSF10 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so therefore this gene has been given an Amber rating.
Hypogonadotropic hypogonadism idiopathic v1.16 IGSF10 Ivone Leong Gene: igsf10 has been classified as Amber List (Moderate Evidence).
Genetic epilepsy syndromes v2.306 PIGU Arina Puzriakova Phenotypes for gene: PIGU were changed from Glycosylphosphatidylinositol biosynthesis defect 2, 618590; myoclonic seizures; focal myoclonic seizures; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
Intellectual disability v3.981 PIGU Arina Puzriakova Phenotypes for gene: PIGU were changed from Glycosylphosphatidylinositol biosynthesis defect 2, 618590; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
Ichthyosis and erythrokeratoderma v1.60 SMARCAD1 Ivone Leong Phenotypes for gene: SMARCAD1 were changed from Basan syndrome, 129200; palmoplantar keratoderma to Basan syndrome, OMIM:129200; palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.59 KRT2 Ivone Leong Phenotypes for gene: KRT2 were changed from to Ichthyosis bullosa of Siemens, OMIM:146800
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques;?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400;Olmsted syndrome, 614594
Ichthyosis and erythrokeratoderma v1.58 TRPV3 Ivone Leong Phenotypes for gene: TRPV3 were changed from Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques; ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400; Olmsted syndrome, 614594 to ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400; Olmsted syndrome, OMIM:614594
Ichthyosis and erythrokeratoderma v1.57 TGM1 Ivone Leong Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 to Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
Ichthyosis and erythrokeratoderma v1.56 TAT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
palmoplantar hyperkeratosis;KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;Tyrosinemia, type II, 276600
Ichthyosis and erythrokeratoderma v1.56 TAT Ivone Leong Phenotypes for gene: TAT were changed from palmoplantar hyperkeratosis; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY; Tyrosinemia, type II, 276600 to Tyrosinemia, type II, OMIM:276600
Ichthyosis and erythrokeratoderma v1.55 STS Ivone Leong Phenotypes for gene: STS were changed from Ichthyosis, X-linked, 308100 to Ichthyosis, X-linked, OMIM:308100
Ichthyosis and erythrokeratoderma v1.54 ST14 Ivone Leong Phenotypes for gene: ST14 were changed from Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400 to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400
Ichthyosis and erythrokeratoderma v1.53 SPINK5 Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM: 256500
Ichthyosis and erythrokeratoderma v1.52 SNAP29 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
CEDNIK syndrome;Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome;Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528
Ichthyosis and erythrokeratoderma v1.52 SNAP29 Ivone Leong Phenotypes for gene: SNAP29 were changed from CEDNIK syndrome; Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528 to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
Ichthyosis and erythrokeratoderma v1.51 SLURP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
keratosis palmoplantaris transgrediens;Diffuse palmoplantar keratoderma;palmoplantar keratoderma;Mal de Meleda (MDM);Meleda disease, 248300
Ichthyosis and erythrokeratoderma v1.51 SLURP1 Ivone Leong Phenotypes for gene: SLURP1 were changed from keratosis palmoplantaris transgrediens; Diffuse palmoplantar keratoderma; palmoplantar keratoderma; Mal de Meleda (MDM); Meleda disease, 248300 to Meleda disease, OMIM:248300
Ichthyosis and erythrokeratoderma v1.50 SLC27A4 Ivone Leong Phenotypes for gene: SLC27A4 were changed from Ichthyosis prematurity syndrome, 608649 to Ichthyosis prematurity syndrome, OMIM:608649
Ichthyosis and erythrokeratoderma v1.49 SERPINB7 Ivone Leong Phenotypes for gene: SERPINB7 were changed from palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, 615598 to palmoplantar keratoderma, recurrent tinea; Palmoplantar keratoderma, Nagashima type, OMIM:615598
Ichthyosis and erythrokeratoderma v1.48 SDR9C7 Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 617574 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Ichthyosis and erythrokeratoderma v1.47 RSPO1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
palmoplantar keratoderma;Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644;Palmoplantar hyperkeratosis and true hermaphroditism, 610644
Ichthyosis and erythrokeratoderma v1.47 RSPO1 Ivone Leong Phenotypes for gene: RSPO1 were changed from palmoplantar keratoderma; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; Palmoplantar hyperkeratosis and true hermaphroditism, 610644 to Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644; Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
Ichthyosis and erythrokeratoderma v1.46 RHBDF2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Howel-Evans syndrome;tylosis with oesophageal cancer;PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;oral leukokeratosis;Focal keratoderma;Hyperkeratosis, diffuse palmoplantar (tylosis);tylosis with esophageal cancer, 148500;KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER
Ichthyosis and erythrokeratoderma v1.46 RHBDF2 Ivone Leong Phenotypes for gene: RHBDF2 were changed from Howel-Evans syndrome; tylosis with oesophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; oral leukokeratosis; Focal keratoderma; Hyperkeratosis, diffuse palmoplantar (tylosis); tylosis with esophageal cancer, 148500; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER to Tylosis with esophageal cancer, OMIM:148500
Ichthyosis and erythrokeratoderma v1.45 PNPLA1 Ivone Leong Phenotypes for gene: PNPLA1 were changed from Ichthyosis, congenital, autosomal recessive 10, 615024 to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
Ichthyosis and erythrokeratoderma v1.44 PIGL Ivone Leong Phenotypes for gene: PIGL were changed from to CHIME syndrome, OMIM:280000
Ichthyosis and erythrokeratoderma v1.43 NIPAL4 Ivone Leong Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6, 612281 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
Ichthyosis and erythrokeratoderma v1.42 LOR Ivone Leong Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, OMIM:604117
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Palmoplantar Keratoderma, Epidermolytic;Diffuse keratoderma with knuckle pads;Diffuse keratoderma with digital mutilation;V rner type palmoplantar keratoderma;Diffuse keratoderma;Palmoplantar keratoderma, epidermolytic, 144200;Epidermolytic Palmoplantar Keratoderma (EPPK)
Ichthyosis and erythrokeratoderma v1.41 KRT9 Ivone Leong Phenotypes for gene: KRT9 were changed from Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK) to Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, OMIM:144200
Ichthyosis and erythrokeratoderma v1.40 KRT6C Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Focal keratoderma;Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735;dystrophic nails
Ichthyosis and erythrokeratoderma v1.40 KRT6C Ivone Leong Phenotypes for gene: KRT6C were changed from Focal keratoderma; Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735; dystrophic nails to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735
Ichthyosis and erythrokeratoderma v1.39 KRT6B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
pachyonychia congenita type 2 (PC-2);Pachyonychia congenita 4, 615728;PC4
Ichthyosis and erythrokeratoderma v1.39 KRT6B Ivone Leong Phenotypes for gene: KRT6B were changed from pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4 to Pachyonychia congenita 4, OMIM:615728
Ichthyosis and erythrokeratoderma v1.38 KRT6A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;Pachyonychia congenital;Pachyonychia Congenita, Type 1
Ichthyosis and erythrokeratoderma v1.38 KRT6A Ivone Leong Phenotypes for gene: KRT6A were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Pachyonychia congenital; Pachyonychia Congenita, Type 1 to Pachyonychia congenita 3, OMIM:615726
Ichthyosis and erythrokeratoderma v1.37 KRT17 Ivone Leong Phenotypes for gene: KRT17 were changed from Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2 to Steatocystoma multiplex, OMIM:184500; Pachyonychia congenita 2, OMIM:167210
Ichthyosis and erythrokeratoderma v1.36 KRT16 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200;focal non-epidermolytic palmoplantar keratoderma (NEPPK);striate keratoderma (palmar);Palmoplantar keratoderma, nonepidermolytic, focal, 613000;Pachyonychia Congenita, Type 1;focal keratoderma (palmar);Focal keratoderma;FNEPPK1;Pachyonychia congenita (PC)
Ichthyosis and erythrokeratoderma v1.36 KRT16 Ivone Leong Phenotypes for gene: KRT16 were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) to Pachyonychia congenita 1, OMIM:167200; Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
Ichthyosis and erythrokeratoderma v1.35 KRT14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Naegeli-Franceschetti-Jadassohn syndrome, 161000;palmoplantar keratoderma;Dermatopathia pigmentosa reticularis, 125595;Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR)
Ichthyosis and erythrokeratoderma v1.35 KRT14 Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000; Dermatopathia pigmentosa reticularis, OMIM:125595
Ichthyosis and erythrokeratoderma v1.34 KRT10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolytic hyperkeratosis (EHK), 113800;erythroderma, prominent scale, and palmoplantar keratoderma;ichthyosis with confetti, 609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
Ichthyosis and erythrokeratoderma v1.34 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 to Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Ichthyosis and erythrokeratoderma v1.33 KRT1 Ivone Leong Added comment: Comment on phenotypes: Prevous phenotype:
Palmoplantar keratoderma, nonepidermolytic, 600962;Palmoplantar keratoderma, epidermolytic, 1;Ichthyosis histrix, Curth-Macklin type, 146590;Epidermolytic hyperkeratosis, 113800;Diffuse palmoplantar keratoderma;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602;triate keratoderma
Ichthyosis and erythrokeratoderma v1.33 KRT1 Ivone Leong Phenotypes for gene: KRT1 were changed from Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma to Palmoplantar keratoderma, nonepidermolytic, OMIM:600962; Palmoplantar keratoderma, epidermolytic, OMIM:; 600962; Ichthyosis histrix, Curth-Macklin type, OMIM:146590; Epidermolytic hyperkeratosis, OMIM:113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Ichthyosis and erythrokeratoderma v1.32 KDSR Ivone Leong Phenotypes for gene: KDSR were changed from Erythrokeratodermia variabilis et progressiva 4, 617526 to Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
Thrombophilia v1.11 PROC Arina Puzriakova Phenotypes for gene: PROC were changed from 612304 Thrombophilia due to protein C deficiency, autosomal recessive; 176860 Thrombophilia due to protein C deficiency, autosomal dominant to Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304; Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860
Ichthyosis and erythrokeratoderma v1.31 JUP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR;palmoplantar keratoderma (PPK), keratoderma with woolly hair;Naxos disease, 601214;KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY
Ichthyosis and erythrokeratoderma v1.31 JUP Ivone Leong Phenotypes for gene: JUP were changed from WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; palmoplantar keratoderma (PPK), keratoderma with woolly hair; Naxos disease, 601214; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY to Naxos disease, OMIM:601214
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia 2, Clouston type, 129500;Clouston syndrome;palmoplantar hyperkeratosis;ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
Ichthyosis and erythrokeratoderma v1.30 GJB6 Ivone Leong Phenotypes for gene: GJB6 were changed from Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT to Ectodermal dysplasia 2, Clouston type, OMIM:129500
Ichthyosis and erythrokeratoderma v1.29 GJB4 Ivone Leong Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis et progressiva 2, 617524 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Ichthyosis and erythrokeratoderma v1.28 GJB3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Erythrokeratoderma;deafness;Erythrokeratodermia variabilis et progressiva, 133200;peripheral neuropathy;Erythrokeratodermia Variabilis
Ichthyosis and erythrokeratoderma v1.28 GJB3 Ivone Leong Phenotypes for gene: GJB3 were changed from Erythrokeratoderma; deafness; Erythrokeratodermia variabilis et progressiva, 133200; peripheral neuropathy; Erythrokeratodermia Variabilis to Erythrokeratodermia variabilis et progressiva, OMIM:133200
Ichthyosis and erythrokeratoderma v1.27 GJB2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hystrix-like ichthyosis with deafness, 602540;Keratoderma, palmoplantar, with deafness, 148350;Deafness, autosomal recessive 1A, 220290;Deafness, autosomal dominant 3A, 601544;Keratitis-ichthyosis-deafness syndrome, 148210;Vohwinkel syndrome, 124500;Keratoderma with deafness;Bart-Pumphrey syndrome, 149200
Ichthyosis and erythrokeratoderma v1.27 GJB2 Ivone Leong Phenotypes for gene: GJB2 were changed from Hystrix-like ichthyosis with deafness, 602540; Keratoderma, palmoplantar, with deafness, 148350; Deafness, autosomal recessive 1A, 220290; Deafness, autosomal dominant 3A, 601544; Keratitis-ichthyosis-deafness syndrome, 148210; Vohwinkel syndrome, 124500; Keratoderma with deafness; Bart-Pumphrey syndrome, 149200 to Hystrix-like ichthyosis with deafness, OMIM:602540; Keratoderma, palmoplantar, with deafness, OMIM:148350; Keratitis-ichthyosis-deafness syndrome, OMIM:148210; Vohwinkel syndrome, OMIM:24500; Bart-Pumphrey syndrome, OMIM:149200
Ichthyosis and erythrokeratoderma v1.26 GJA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
keratoderma, hypotrichosis and leukonychia;Palmoplantar keratoderma with congenital alopecia, 104100;Erythrokeratoderma;Erythrokeratodermia variabilis et progressiva 3, 617525;Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma;Palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.26 GJA1 Ivone Leong Phenotypes for gene: GJA1 were changed from keratoderma, hypotrichosis and leukonychia; Palmoplantar keratoderma with congenital alopecia, 104100; Erythrokeratoderma; Erythrokeratodermia variabilis et progressiva 3, 617525; Oculodentodigital dysplasia (ODDD) with palmoplantar keratoderma; Palmoplantar keratoderma to Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Ichthyosis and erythrokeratoderma v1.25 FLG2 Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM: 618084
Ichthyosis and erythrokeratoderma v1.24 FLG Ivone Leong Phenotypes for gene: FLG were changed from to Ichthyosis vulgaris, OMIM:146700
Ichthyosis and erythrokeratoderma v1.23 ENPP1 Ivone Leong Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v1.22 DSP Ivone Leong Phenotypes for gene: DSP were changed from Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676; Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
Ichthyosis and erythrokeratoderma v1.21 DSP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Skin fragility-woolly hair syndrome;Keratosis palmoplantaris striata II, 612908;lethal acantholytic epidermolysis bullosa, 609638;Striate keratoderma with woolly hair and cardiomyopathy;Skin fragility-woolly hair syndrome, 607655;oligodontia or hypodontia;alopecia, follicular hyperkeratoses and keratoderma;diffuse keratoderma;Epidermolysis bullosa, lethal acantholytic;striate keratoderma;CARVAJAL SYNDROME;Arrhythmogenic right ventricular dysplasia 8, 607450;Keratosis palmoplantaris striata II;Dilated cardiomyopathy with woolly hair and keratoderma, 605676
Ichthyosis and erythrokeratoderma v1.21 DSP Ivone Leong Phenotypes for gene: DSP were changed from Skin fragility-woolly hair syndrome; Keratosis palmoplantaris striata II, 612908; lethal acantholytic epidermolysis bullosa, 609638; Striate keratoderma with woolly hair and cardiomyopathy; Skin fragility-woolly hair syndrome, 607655; oligodontia or hypodontia; alopecia, follicular hyperkeratoses and keratoderma; diffuse keratoderma; Epidermolysis bullosa, lethal acantholytic; striate keratoderma; CARVAJAL SYNDROME; Arrhythmogenic right ventricular dysplasia 8, 607450; Keratosis palmoplantaris striata II; Dilated cardiomyopathy with woolly hair and keratoderma, 605676 to Keratosis palmoplantaris striata II, OMIM:612908; Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655; Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676
Thrombophilia v1.10 HRG Arina Puzriakova Phenotypes for gene: HRG were changed from 613116 Thrombophilia due to HRG deficiency to Thrombophilia due to HRG deficiency, OMIM:613116
Ichthyosis and erythrokeratoderma v1.20 DSG1 Ivone Leong Phenotypes for gene: DSG1 were changed from Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700 to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
Ichthyosis and erythrokeratoderma v1.19 DSC2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Arrhythmogenic right ventricular dysplasia 11, 610476;Striate keratoderma with woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476
Ichthyosis and erythrokeratoderma v1.19 DSC2 Ivone Leong Phenotypes for gene: DSC2 were changed from Arrhythmogenic right ventricular dysplasia 11, 610476; Striate keratoderma with woolly hair; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
Ichthyosis and erythrokeratoderma v1.18 CYP4F22 Ivone Leong Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, OMIM:604777
Ichthyosis and erythrokeratoderma v1.17 CERS3 Ivone Leong Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 to Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
Ichthyosis and erythrokeratoderma v1.16 CLDN1 Ivone Leong Phenotypes for gene: CLDN1 were changed from to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
Ichthyosis and erythrokeratoderma v1.15 CAST Ivone Leong Phenotypes for gene: CAST were changed from Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Ichthyosis and erythrokeratoderma v1.14 CAST Ivone Leong Publications for gene: CAST were set to
Ichthyosis and erythrokeratoderma v1.13 CARD14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
familial pityriasis rubra pilaris;Pityriasis rubra pilaris, 173200;keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
Ichthyosis and erythrokeratoderma v1.13 CARD14 Ivone Leong Phenotypes for gene: CARD14 were changed from familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma to Pityriasis rubra pilaris, OMIM:173200
Ichthyosis and erythrokeratoderma v1.12 AQP5 Ivone Leong Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type, 600231 to Palmoplantar keratoderma, Bothnian type, OMIM:600231
Ichthyosis and erythrokeratoderma v1.11 ALOX12B Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Ichthyosis and erythrokeratoderma v1.10 ALOXE3 Ivone Leong Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, OMIM:606545 to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545; congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
Ichthyosis and erythrokeratoderma v1.9 ALOXE3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Most patients present with collodion membrane at birth and have palmoplantar keratoderma;Ichthyosis, congenital, autosomal recessive 3, 606545;Nonbullous congenital ichthyosiform erythroderma (NBCIE)
Ichthyosis and erythrokeratoderma v1.9 ALOXE3 Ivone Leong Phenotypes for gene: ALOXE3 were changed from Most patients present with collodion membrane at birth and have palmoplantar keratoderma; Ichthyosis, congenital, autosomal recessive 3, 606545; Nonbullous congenital ichthyosiform erythroderma (NBCIE) to Ichthyosis, congenital, autosomal recessive 3, OMIM:606545
Ichthyosis and erythrokeratoderma v1.8 ABCA12 Ivone Leong Phenotypes for gene: ABCA12 were changed from Ichthyosis, autosomal recessive 4B (harlequin), 242500; Ichthyosis, congenital, autosomal recessive 4A, 601277 to Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500; Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
Ichthyosis and erythrokeratoderma v1.7 AAGAB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Keratoderma, palmoplantar, punctate type IA, 148600;PPKP Buschke-Fischer-Brauer type;Punctate keratoderma and congenital dysplasia of the hip;Punctate keratoderma
Ichthyosis and erythrokeratoderma v1.7 AAGAB Ivone Leong Phenotypes for gene: AAGAB were changed from Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma to Keratoderma, palmoplantar, punctate type IA, OMIM:148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip
Thrombophilia v1.9 FGG Arina Puzriakova Phenotypes for gene: FGG were changed from 202400 Afibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital to Afibrinogenemia, congenital, OMIM:202400; Hypofibrinogenemia, congenital, OMIM:202400; Dysfibrinogenemia, congenital, OMIM:616004; Hypodysfibrinogenemia, OMIM:616004; Thrombophilia, MONDO:0002305
Thrombophilia v1.8 FGB Arina Puzriakova Phenotypes for gene: FGB were changed from 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital to Afibrinogenemia, congenital, OMIM:202400; Hypofibrinogenemia, congenital, OMIM:202400; Dysfibrinogenemia, congenital, OMIM:616004; Thrombophilia, MONDO:0002305
Thrombophilia v1.7 FGA Arina Puzriakova Phenotypes for gene: FGA were changed from 202400 Afibrinogenemia, congenital; 616004 Dysfibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Hypodysfibrinogenemia, congenital; 202400 Afibrinogenemia, congenital, 105200 Amyloidosis, familial visceral, 616004 Dysfibrinogenemia, congenital, 616004 Hypodysfibrinogenemia, congenital to 202400 Afibrinogenemia, congenital; 105200 Amyloidosis, familial visceral; 616004 Dysfibrinogenemia, congenital; 616004 Hypodysfibrinogenemia, congenital
Severe Paediatric Disorders v1.66 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Cytopenia - NOT Fanconi anaemia v1.36 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Cytopenias and congenital anaemias v1.84 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Familial Thrombotic Thrombocytopenia Purpura; Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Atypical haemolytic uraemic syndrome v2.8 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, MIM# 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Bleeding and platelet disorders v1.23 ADAMTS13 Arina Puzriakova Publications for gene: ADAMTS13 were set to 15009458; 11586351; 12753286
Thrombophilia v1.6 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Thrombophilia v1.6 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Thrombophilia v1.6 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.; to: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Bleeding and platelet disorders v1.22 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited bleeding disorders v1.158 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP; Thrombotic disorder; Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Bleeding and platelet disorders v1.21 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Inherited bleeding disorders v1.157 ADAMTS13 Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' - only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.
Inherited bleeding disorders v1.157 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Thrombophilia v1.5 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI was removed from gene: ADAMTS13.
Thrombophilia v1.5 ADAMTS13 Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Thrombophilia v1.5 ADAMTS13 Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Hereditary Erythrocytosis v1.35 EGLN3 Arina Puzriakova Phenotypes for gene: EGLN3 were changed from erythrocytosis to Familial erythrocytosis
Hereditary Erythrocytosis v1.34 SH2B3 Arina Puzriakova Phenotypes for gene: SH2B3 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v1.33 SH2B3 Arina Puzriakova Publications for gene: SH2B3 were set to
Hereditary Erythrocytosis v1.32 JAK2 Arina Puzriakova Phenotypes for gene: JAK2 were changed from Erythrocytosis, somatic 133100 to Erythrocytosis, somatic, OMIM:133100
Hereditary Erythrocytosis v1.31 BPGM Arina Puzriakova Phenotypes for gene: BPGM were changed from Erythrocytosis, familial, 8 222800 to Erythrocytosis, familial, 8, OMIM:222800
Hereditary Erythrocytosis v1.30 VHL Arina Puzriakova Phenotypes for gene: VHL were changed from Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins to Erythrocytosis, familial, 2, OMIM:263400
Hereditary Erythrocytosis v1.29 HBB Arina Puzriakova Phenotypes for gene: HBB were changed from Familial erythrocytosis to Erythrocytosis 6, OMIM:617980
Hereditary Erythrocytosis v1.28 HBA2 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemia, OMIM:140700; Hemoglobin H disease, deletional and nondeletional, OMIM:613978; Thalassemia, alpha-, OMIM:604131
Hereditary Erythrocytosis v1.28 HBA2 Arina Puzriakova Phenotypes for gene: HBA2 were changed from Erythrocytosis to Erythrocytosis 7, OMIM:617981
Hereditary Erythrocytosis v1.27 HBA1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131
Hereditary Erythrocytosis v1.27 HBA1 Arina Puzriakova Phenotypes for gene: HBA1 were changed from Familial erythrocytosis to Erythrocytosis 7, OMIM:617981
Hereditary Erythrocytosis v1.26 EPOR Arina Puzriakova Phenotypes for gene: EPOR were changed from Polcythaemia; erythrocytosis; Familial Erythrocytosis to [Erythrocytosis, familial, 1], OMIM:133100
Hereditary Erythrocytosis v1.25 EPO Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with ?Diamond-Blackfan anemia-like, OMIM:617911; {Microvascular complications of diabetes 2}, OMIM:612623
Hereditary Erythrocytosis v1.25 EPO Arina Puzriakova Phenotypes for gene: EPO were changed from Erythrocytosis, familial, 5 617907 to Erythrocytosis, familial, 5, OMIM:617907
Hereditary Erythrocytosis v1.24 EPAS1 Arina Puzriakova Phenotypes for gene: EPAS1 were changed from Familial Erythrocytosis, 611783; Erythrocystosis; Pulmonary arterial hypertension; paraganglioma to Erythrocytosis, familial, 4, OMIM:611783
Hereditary Erythrocytosis v1.23 EGLN1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with [Hemoglobin, high altitude adaptation], OMIM:609070
Hereditary Erythrocytosis v1.23 EGLN1 Arina Puzriakova Phenotypes for gene: EGLN1 were changed from Familial Erythrocytosis 609820; Polycythaemia; paraganglioma; phaeochromocytoma to Erythrocytosis, familial, 3, OMIM:609820
Combined factor V and VIII deficiency v1.6 MCFD2 Arina Puzriakova Phenotypes for gene: MCFD2 were changed from Factor V and factor VIII, combined deficiency of, 613625; 227300 Combined factor V and VIII deficiency; 613625 Factor V and factor VIII, combined deficiency of to Factor V and factor VIII, combined deficiency of, OMIM:613625
Combined factor V and VIII deficiency v1.5 LMAN1 Arina Puzriakova Phenotypes for gene: LMAN1 were changed from 227300 Combined factor V and VIII deficiency; Combined factor V and VIII deficiency, 227300 to Combined factor V and VIII deficiency, OMIM:227300
Endocrine neoplasms v1.22 PTEN Ivone Leong Tag Q2_21_rating tag was added to gene: PTEN.
Tag Q2_21_NHS_review tag was added to gene: PTEN.
Endocrine neoplasms v1.22 MLH1 Ivone Leong Tag Q2_21_rating tag was added to gene: MLH1.
Tag Q2_21_NHS_review tag was added to gene: MLH1.
Endocrine neoplasms v1.22 MSH2 Ivone Leong Tag Q2_21_rating tag was added to gene: MSH2.
Tag Q2_21_NHS_review tag was added to gene: MSH2.
Endocrine neoplasms v1.22 MSH6 Ivone Leong Tag Q2_21_rating tag was added to gene: MSH6.
Tag Q2_21_NHS_review tag was added to gene: MSH6.
Endocrine neoplasms v1.22 PMS2 Ivone Leong Tag Q2_21_rating tag was added to gene: PMS2.
Tag Q2_21_NHS_review tag was added to gene: PMS2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 NF1 Ivone Leong Tag Q2_21_rating tag was added to gene: NF1.
Tag Q2_21_NHS_review tag was added to gene: NF1.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.15 EPAS1 Ivone Leong Tag Q2_21_rating tag was added to gene: EPAS1.
Tag Q2_21_NHS_review tag was added to gene: EPAS1.
Hypogonadotropic hypogonadism idiopathic v1.15 CCDC141 Ivone Leong Tag Q2_21_expert_review tag was added to gene: CCDC141.
Hypogonadotropic hypogonadism idiopathic v1.15 CCDC141 Ivone Leong Classified gene: CCDC141 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism idiopathic v1.15 CCDC141 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 251920460 describes 2 affected siblings from a consanguineous family with anosmic HH, who had homozygous variant in FEZF1 (Amber gene on this panel) and also homozyous for variant in CCDC141.

PMID: 28324054 describes the above case and also 3 new cases (all had normal sense of smell and HH). Family 2: compound het for CCDC141 and heterozygous for DMXL2 variant. Family 3: heterozygous for CCDC141 variant and heterozygous for variants in 3 other genes (NR5A2, FSHB - Green on HH panel, IGSF10). Family 4: affected patient was heterozygous for CCDC141 variant, which the father also carried but father was unaffected.

PMID: 32520725 describes a large Chinese cohort with congenital HH looking at the contribution of CCDC141 to the disease. 12 probands had variants CCDC141 and 9 of these probands had variants in other HH-related genes (inluding PCSK1, ANOS1, PROKR2, AXL, SOX10, HS6ST1, PNPLA6 and FGFR1). The authors concluded that CCDC141 variants alone is not sufficient to cause HH.

PMID: 27014940 talks about a ccdc141 knockdown mouse model reduces GnRH neuronal migration.

After discussing with the Genomics England Clinical Team, it was decided that this gene should have an Amber rating as variants. Helen Brittain (Genomics England):
"...variants in this gene may be seen as a risk allele (either with other known contributory genetic factors, or unexplained variable penetrance)."
Hypogonadotropic hypogonadism idiopathic v1.15 CCDC141 Ivone Leong Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism idiopathic v1.14 CCDC141 Ivone Leong Phenotypes for gene: CCDC141 were changed from Anosmic hypogonadotropic hypogonadism to Anosmic hypogonadotropic hypogonadism; congenital hypogonadotropic hypogonadism, MONDO:0015770
Hypogonadotropic hypogonadism idiopathic v1.13 CCDC141 Ivone Leong Publications for gene: CCDC141 were set to 27014940; 28324054; 25192046
Intestinal failure v1.12 FLNA Ivone Leong Tag Q2_21_rating tag was added to gene: FLNA.
Tag Q2_21_NHS_review tag was added to gene: FLNA.
Intestinal failure v1.12 FLNA Ivone Leong Classified gene: FLNA as Amber List (moderate evidence)
Intestinal failure v1.12 FLNA Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure v1.12 FLNA Ivone Leong Gene: flna has been classified as Amber List (Moderate Evidence).
Intestinal failure v1.11 FLNA Ivone Leong Phenotypes for gene: FLNA were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:300048
Intestinal failure v1.10 FLNA Ivone Leong Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
Intestinal failure v1.9 CLMP Ivone Leong Tag Q2_21_rating tag was added to gene: CLMP.
Tag Q2_21_NHS_review tag was added to gene: CLMP.
Intestinal failure v1.9 CLMP Ivone Leong Classified gene: CLMP as Amber List (moderate evidence)
Intestinal failure v1.9 CLMP Ivone Leong Added comment: Comment on list classification: New gene added by Miranda Durkie (Genetics). This gene is associated with a relevant disorder on OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Intestinal failure v1.9 CLMP Ivone Leong Gene: clmp has been classified as Amber List (Moderate Evidence).
Intestinal failure v1.8 CLMP Ivone Leong Phenotypes for gene: CLMP were changed from Congenital short bowel to Congenital short bowel syndrome, OMIM:615237
Intestinal failure v1.7 CLMP Ivone Leong Publications for gene: CLMP were set to 27352967; 22155368; 33384711; 31061750
Intestinal failure v1.6 CLMP Ivone Leong Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
Hypogonadotropic hypogonadism idiopathic v1.12 FEZF1 Ivone Leong Phenotypes for gene: FEZF1 were changed from Hypogonadotropic hypogonadism type 22 (OMIM 616030) to Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030
Vascular skin disorders v1.47 PTEN Ivone Leong Phenotypes for gene: PTEN were changed from Cowden syndrome 1, 158350; capillary venous malformations to Cowden syndrome 1, OMIM:158350; capillary venous malformations
Vascular skin disorders v1.46 ATR Ivone Leong Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564
Vascular skin disorders v1.45 TMEM173 Ivone Leong Phenotypes for gene: TMEM173 were changed from STING-associated vasculopathy to STING-associated vasculopathy, infantile-onset, OMIM:615934
Vascular skin disorders v1.44 TMEM173 Ivone Leong Publications for gene: TMEM173 were set to
Vascular skin disorders v1.43 TEK Ivone Leong Phenotypes for gene: TEK were changed from Venous malformations to Venous malformations, multiple cutaneous and mucosal, OMIM:600195
Vascular skin disorders v1.42 TEK Ivone Leong Publications for gene: TEK were set to
Vascular skin disorders v1.41 SOX18 Ivone Leong Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
Vascular skin disorders v1.40 SOX18 Ivone Leong Publications for gene: SOX18 were set to
Vascular skin disorders v1.39 SMAD4 Ivone Leong Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Vascular skin disorders v1.38 SMAD4 Ivone Leong Publications for gene: SMAD4 were set to
Vascular skin disorders v1.37 SCN9A Ivone Leong Phenotypes for gene: SCN9A were changed from Erythromyalgia to Erythermalgia, primary, OMIM:133020
Vascular skin disorders v1.36 SCN9A Ivone Leong Publications for gene: SCN9A were set to
Vascular skin disorders v1.35 RASA1 Ivone Leong Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation syndrome to Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354
Vascular skin disorders v1.34 RASA1 Ivone Leong Publications for gene: RASA1 were set to
Vascular skin disorders v1.33 PIK3R2 Ivone Leong Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387 to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OMIM:603387
Vascular skin disorders v1.32 PIK3R2 Ivone Leong Publications for gene: PIK3R2 were set to
Vascular skin disorders v1.31 PIK3CA Ivone Leong Phenotypes for gene: PIK3CA were changed from PIK3CA-related overgrowth syndromes; Vascular malformations to PIK3CA-related overgrowth syndromes; Vascular malformation, MONDO:0024291
Vascular skin disorders v1.30 PIK3CA Ivone Leong Publications for gene: PIK3CA were set to
Vascular skin disorders v1.29 KRIT1 Ivone Leong Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS, 116860 to CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860
Vascular skin disorders v1.28 KRIT1 Ivone Leong Publications for gene: KRIT1 were set to
Vascular skin disorders v1.27 GLMN Ivone Leong Phenotypes for gene: GLMN were changed from Glomulovenous malformations to Glomulovenous malformations, OMIM:138000
Vascular skin disorders v1.26 GLMN Ivone Leong Publications for gene: GLMN were set to
Vascular skin disorders v1.25 FOXC2 Ivone Leong Phenotypes for gene: FOXC2 were changed from Lymphoedema-distichiasis syndrome to Lymphoedema-distichiasis syndrome, OMIM:153400
Vascular skin disorders v1.24 FOXC2 Ivone Leong Publications for gene: FOXC2 were set to
Vascular skin disorders v1.23 FLT4 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile haemangioma;Milroy disease
Vascular skin disorders v1.23 FLT4 Ivone Leong Phenotypes for gene: FLT4 were changed from Infantile haemangioma; Milroy disease to Hemangioma, capillary infantile, somatic, OMIM:602089
Vascular skin disorders v1.22 FLT4 Ivone Leong Publications for gene: FLT4 were set to
Vascular skin disorders v1.21 FECH Ivone Leong Phenotypes for gene: FECH were changed from Protoporphyria, erythropoietic, 1 to Protoporphyria, erythropoietic, 1, OMIM:177000
Vascular skin disorders v1.20 F12 Ivone Leong Phenotypes for gene: F12 were changed from Hereditary angioedema to Angioedema, hereditary, type III, OMIM:610618
Vascular skin disorders v1.19 F12 Ivone Leong Publications for gene: F12 were set to
Vascular skin disorders v1.18 EPHB4 Ivone Leong Phenotypes for gene: EPHB4 were changed from CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196 to CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, OMIM:618196
Vascular skin disorders v1.17 EPHB4 Ivone Leong Publications for gene: EPHB4 were set to
Vascular skin disorders v1.16 ENG Ivone Leong Phenotypes for gene: ENG were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Vascular skin disorders v1.15 ENG Ivone Leong Publications for gene: ENG were set to
Vascular skin disorders v1.14 CCBE1 Ivone Leong Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphoedema syndrome to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Vascular skin disorders v1.13 CCBE1 Ivone Leong Publications for gene: CCBE1 were set to
Vascular skin disorders v1.12 ATM Ivone Leong Phenotypes for gene: ATM were changed from Ataxia telengiectasia to Ataxia telengiectasia, OMIM:208900
Vascular skin disorders v1.11 ATM Ivone Leong Publications for gene: ATM were set to
Vascular skin disorders v1.10 ALAS2 Ivone Leong Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752 to Protoporphyria, erythropoietic, X-linked, OMIM:300752
Vascular skin disorders v1.9 ALAS2 Ivone Leong Publications for gene: ALAS2 were set to
Vascular skin disorders v1.8 ADAMTS13 Ivone Leong Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Vascular skin disorders v1.7 ADAMTS13 Ivone Leong Publications for gene: ADAMTS13 were set to
Vascular skin disorders v1.6 ACVRL1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hereditary haemorrhagic telengiectasia
Vascular skin disorders v1.6 ACVRL1 Ivone Leong Phenotypes for gene: ACVRL1 were changed from Hereditary haemorrhagic telengiectasia to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Vascular skin disorders v1.5 ACVRL1 Ivone Leong Publications for gene: ACVRL1 were set to
Congenital myaesthenic syndrome v2.36 VAMP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndrome; presynaptic CMS
Congenital myaesthenic syndrome v2.36 VAMP1 Ivone Leong Phenotypes for gene: VAMP1 were changed from Congenital myasthenic syndrome; presynaptic CMS to Myasthenic syndrome, congenital, 25, OMIM:618323
Congenital myaesthenic syndrome v2.35 SYT2 Ivone Leong Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, 616040 to Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Congenital myaesthenic syndrome v2.34 SYT2 Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review); 30533528
Congenital myaesthenic syndrome v2.33 SLC5A7 Ivone Leong Phenotypes for gene: SLC5A7 were changed from Congenital myasthenic syndrome; Hereditory motor neuropathy; Myasthenic syndrome, congenital, 20, presynaptic, 617143 to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Congenital myaesthenic syndrome v2.32 SLC25A1 Ivone Leong Phenotypes for gene: SLC25A1 were changed from ?Myasthenic syndrome, congenital, 23, presynaptic; 618197 to Myasthenic syndrome, congenital, 23, presynaptic, OMIM:618197
Congenital myaesthenic syndrome v2.31 SLC18A3 Ivone Leong Phenotypes for gene: SLC18A3 were changed from Congenital myasthenic syndrome; ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239 to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
Congenital myaesthenic syndrome v2.30 SCN4A Ivone Leong Phenotypes for gene: SCN4A were changed from Myasthenic syndrome, congenital, 16, 614198; Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes to Myasthenic syndrome, congenital, 16, OMIM:614198
Congenital myaesthenic syndrome v2.29 RAPSN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326;acute respiratory crises;late and early onset
Congenital myaesthenic syndrome v2.29 RAPSN Ivone Leong Phenotypes for gene: RAPSN were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326; acute respiratory crises; late and early onset to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
Congenital myaesthenic syndrome v2.28 PLEC Ivone Leong Phenotypes for gene: PLEC were changed from Congenital myasthenic syndrome; Plectin deficiency; myasthenic syndrome; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS) to Congenital myasthenic syndrome; Plectin deficiency; Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Congenital myaesthenic syndrome v2.27 MUSK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325;Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome
Congenital myaesthenic syndrome v2.27 MUSK Ivone Leong Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325; Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, OMIM:616325
Congenital myaesthenic syndrome v2.26 LRP4 Ivone Leong Phenotypes for gene: LRP4 were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 17, 616304 to ?Myasthenic syndrome, congenital, 17, OMIM:616304
Congenital myaesthenic syndrome v2.25 GMPPB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome;muscular dystrophy-dystroglycanopathy;congenital muscular dystrophy with mental retardation;GMPPB-CMS;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome;MDDGC14 with features of CMS
Congenital myaesthenic syndrome v2.25 GMPPB Ivone Leong Phenotypes for gene: GMPPB were changed from Congenital Myasthenic Syndrome; muscular dystrophy-dystroglycanopathy; congenital muscular dystrophy with mental retardation; GMPPB-CMS; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome; MDDGC14 with features of CMS to Congenital Myasthenic Syndrome, MONDO:0018940
Pulmonary arterial hypertension v2.9 AQP1 Nicholas Morrell reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29650961; Phenotypes: Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myaesthenic syndrome v2.24 GFPT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome;tubular aggregates
Congenital myaesthenic syndrome v2.24 GFPT1 Ivone Leong Phenotypes for gene: GFPT1 were changed from Congenital Myasthenic Syndrome, Recessive; Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
Congenital myaesthenic syndrome v2.23 DPAGT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital disorder of glycosylation, type Ij, 608093;Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750;Limb girdle congenital myasthenic;tubular aggregates;congenital disorder of glycosylation type Ij (CDG-IJ)
Congenital myaesthenic syndrome v2.23 DPAGT1 Ivone Leong Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ) to Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
Congenital myaesthenic syndrome v2.22 DOK7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 10, 254300;Myasthenia, limb-girdle, familial;Limb girdle congenital myasthenic syndrome
Congenital myaesthenic syndrome v2.22 DOK7 Ivone Leong Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial; Limb girdle congenital myasthenic syndrome to Myasthenic syndrome, congenital, 10, OMIM:254300
Congenital myaesthenic syndrome v2.21 COLQ Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Recessive;Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency;Myasthenic syndrome, congenital, 5, 603034
Congenital myaesthenic syndrome v2.21 COLQ Ivone Leong Phenotypes for gene: COLQ were changed from Congenital Myasthenic Syndrome, Recessive; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, OMIM:603034
Congenital myaesthenic syndrome v2.20 COL13A1 Ivone Leong Phenotypes for gene: COL13A1 were changed from Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720 to Myasthenic syndrome, congenital, 19, OMIM:616720
Congenital myaesthenic syndrome v2.19 CHRNG Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenia gravis, neonatal transient;Neonatal congenital myasthenia;escobar syndrome;fetal akinesia deformation sequence syndrome/FADS;multiple pterygium syndrome/MPS
Congenital myaesthenic syndrome v2.19 CHRNG Ivone Leong Phenotypes for gene: CHRNG were changed from Myasthenia gravis, neonatal transient; Neonatal congenital myasthenia; escobar syndrome; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS to transient neonatal myasthenia gravis, MONDO:0018326
Congenital myaesthenic syndrome v2.18 CHRNE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 4A, slow-channel, 605809;Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Reduced channel conductance syndrome
Congenital myaesthenic syndrome v2.18 CHRNE Ivone Leong Phenotypes for gene: CHRNE were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Reduced channel conductance syndrome to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Congenital myaesthenic syndrome v2.17 CHRND Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, slow-channel congenital, 601462;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;?Myasthenic syndrome, congenital, 3A, slow-channel, 616321;?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323;Myasthenic syndrome, congenital, 3B, fast-channel, 616322
Congenital myaesthenic syndrome v2.17 CHRND Ivone Leong Phenotypes for gene: CHRND were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, slow-channel congenital, 601462; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323; Myasthenic syndrome, congenital, 3B, fast-channel, 616322 to ?Myasthenic syndrome, congenital, 3A, slow-channel, OMIM:616321; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, OMIM:616323; Myasthenic syndrome, congenital, 3B, fast-channel, OMIM:616322
Congenital myaesthenic syndrome v2.16 CHRNB1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314;Myasthenic syndrome, congenital, 2A, slow-channel, 616313;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome;Myasthenic syndrome, slow-channel congenital, 601462;Congenital Myasthenic Syndrome, Dominant/Recessive
Congenital myaesthenic syndrome v2.16 CHRNB1 Ivone Leong Phenotypes for gene: CHRNB1 were changed from ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome; Myasthenic syndrome, slow-channel congenital, 601462; Congenital Myasthenic Syndrome, Dominant/Recessive to ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314; Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
Congenital myaesthenic syndrome v2.15 CHRNB1 Ivone Leong Added comment: Comment on publications: In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Congenital myaesthenic syndrome v2.15 CHRNB1 Ivone Leong Publications for gene: CHRNB1 were set to 8651643; 8872460; 22104196; 8651643; In 3 siblings with congenital myasthenic syndrome-2C associated with AChR deficiency (OMIM:616314), Quiram et al. (1999, PMID:10562302) identified compound heterozygosity for 2 mutations in the CHRNB1 gene.
Congenital myaesthenic syndrome v2.14 CHRNA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 1A, slow-channel, 601462;Myasthenic syndrome, congenital, 1B, fast-channel, 608930;Slow channel myasthenic syndrome;fast channel myasthenic syndrome;Acetylcholine receptor deficiency syndrome
Congenital myaesthenic syndrome v2.14 CHRNA1 Ivone Leong Phenotypes for gene: CHRNA1 were changed from Congenital Myasthenic Syndrome, Dominant/Recessive; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Slow channel myasthenic syndrome; fast channel myasthenic syndrome; Acetylcholine receptor deficiency syndrome to Myasthenic syndrome, congenital, 1A, slow-channel, OMIM:601462; Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
Congenital myaesthenic syndrome v2.13 CHRNA1 Ivone Leong Added comment: Comment on publications: PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
Congenital myaesthenic syndrome v2.13 CHRNA1 Ivone Leong Publications for gene: CHRNA1 were set to 7619526; 15034283; PMID:15079006 (Webster et al., 2004) report the heterozygous CHRNA1 mutation causing fast-channel congenital myasthenic syndrome-1B (OMIM:608930). The other reports for this disorder are for biallelic mutations.
Congenital myaesthenic syndrome v2.12 CHAT Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myasthenic syndrome, congenital, 6, presynaptic, 254210;Congenital myasthenics sndrome associated with episodic apnea;CMS-EA
Congenital myaesthenic syndrome v2.12 CHAT Ivone Leong Phenotypes for gene: CHAT were changed from Myasthenic syndrome, congenital, 6, presynaptic, 254210; Congenital myasthenics sndrome associated with episodic apnea; CMS-EA to Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
Congenital myaesthenic syndrome v2.11 ALG2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndromes;Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228;Congenital disorder of glycosylation CDG type Ii, 607906
Congenital myaesthenic syndrome v2.11 ALG2 Ivone Leong Phenotypes for gene: ALG2 were changed from Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228; Congenital disorder of glycosylation CDG type Ii, 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
Congenital myaesthenic syndrome v2.10 ALG14 Ivone Leong Phenotypes for gene: ALG14 were changed from Congenital myasthenic syndrome; ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
Congenital myaesthenic syndrome v2.9 AGRN Ivone Leong Phenotypes for gene: AGRN were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Cystic kidney disease v2.23 FLCN Daniel Gale gene: FLCN was added
gene: FLCN was added to Cystic kidney disease. Sources: Literature,Expert Review
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to PMID: 19785621; 31266032
Phenotypes for gene: FLCN were set to renal cysts; cutaneous fibrofolliculoma; pneumothorax; pulmonary cysts; renal cell carcinoma; renal oncocytoma
Penetrance for gene: FLCN were set to Incomplete
Review for gene: FLCN was set to GREEN
Added comment: Birt Hogg Dube syndrome (caused by variants in FLCN) is frequently associated with multiple renal cysts, without renal enlargement or progressive CKD. Previous published data indicate simple renal cysts present in 31-45% (PMID: 31266032;19785621) of patients with BHD and audit of 20 patients I follow up revealed simple renal cysts in 11 (multiple in 9 of these individuals) i.e. similar to the literature. Therefore BHD should be considered in the differential diagnosis of multiple renal cysts (without renal enlargement).
Sources: Literature, Expert Review
Paediatric motor neuronopathies v1.62 DCTN1 Dmitrijs Rots Deleted their review
Paediatric motor neuronopathies v1.62 DCTN1 Dmitrijs Rots reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.7 ALX1 Tracy Lester reviewed gene: ALX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal dysplasia type 3 613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
TEST_OCT_2020_1 v0.7 AGA Tracy Lester reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
TEST_OCT_2020_1 v0.6 ALX1 Eleanor Williams gene: ALX1 was added
gene: ALX1 was added to TEST_OCT_2020_1. Sources: Literature
Mode of inheritance for gene: ALX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TEST_OCT_2020_1 v0.5 AGA Eleanor Williams gene: AGA was added
gene: AGA was added to TEST_OCT_2020_1. Sources: Literature
Mode of inheritance for gene: AGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus v2.11 EEF2 Eleanor Williams Tag Q2_21_rating tag was added to gene: EEF2.
Hydrocephalus v2.11 EEF2 Eleanor Williams Classified gene: EEF2 as Amber List (moderate evidence)
Hydrocephalus v2.11 EEF2 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation of a green rating at the next GMS review. 3 cases reported with macrocephaly associated with ventriculomegaly. Recommended for addition to the panel by Genomics England clinician.
Hydrocephalus v2.11 EEF2 Eleanor Williams Gene: eef2 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.10 EEF2 Eleanor Williams gene: EEF2 was added
gene: EEF2 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to hydrocephaly
Review for gene: EEF2 was set to GREEN
Added comment: PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly (benign hydrocephaly)
Sources: Literature
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported. Added to panel at recommendation of Genomics England clinician.
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.8 KIDINS220 Eleanor Williams gene: KIDINS220 was added
gene: KIDINS220 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures
Review for gene: KIDINS220 was set to GREEN
Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported plus a supportive mouse model.
Arthrogryposis v3.76 KIDINS220 Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v3.75 KIDINS220 Eleanor Williams gene: KIDINS220 was added
gene: KIDINS220 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures
Review for gene: KIDINS220 was set to GREEN
Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Fetal anomalies v1.636 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to Biallelic with a recommendation for a green rating for this mode of inhertiance as there are now 3 cases with biallelic inheritance and a fetal phenotype.
Fetal anomalies v1.636 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v1.52 COL6A3 Ivone Leong Classified gene: COL6A3 as Amber List (moderate evidence)
Structural eye disease v1.52 COL6A3 Ivone Leong Gene: col6a3 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.51 COL6A3 Ivone Leong gene: COL6A3 was added
gene: COL6A3 was added to Structural eye disease. Sources: Literature
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 33304895
Phenotypes for gene: COL6A3 were set to Peters anomaly
Review for gene: COL6A3 was set to AMBER
Added comment: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

Zornitza's review on the Cataracts panel (Version 2.66)
"Not sure if this is the right panel for Peters anomaly. Variants in this gene are associated with neurological phenotypes (myopathy, dystonia). Two families reported with bi-allelic missense variants in this gene and Peters anomaly, limited functional data. Sources: Literature
Zornitza Stark (Australian Genomics), 7 Jan 2021"

There is currently not enough evidence to support a gene-disease association, so this gene has been given an Amber rating.
Sources: Literature
Cataracts v2.66 COL6A3 Ivone Leong Classified gene: COL6A3 as Red List (low evidence)
Cataracts v2.66 COL6A3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene has been given a Red rating as this phenotype is not appropriate for this panel.

This gene has been added to the Structural eye disease panel (panel ID: 509).
Cataracts v2.66 COL6A3 Ivone Leong Gene: col6a3 has been classified as Red List (Low Evidence).
Disorders of sex development v2.45 FGFR2 Ivone Leong Tag Q2_21_expert_review tag was added to gene: FGFR2.
Disorders of sex development v2.45 FGFR2 Ivone Leong Classified gene: FGFR2 as Amber List (moderate evidence)
Disorders of sex development v2.45 FGFR2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

After consulting with the Genomics England Clinical Team, it was decided that this gene should be rated Amber. Helen Brittain (Genomics England):
"In the fetal cases the potential DSD phentoype is very mild and eclipsed by the skeletal / craniosynostosis presentation."
Disorders of sex development v2.45 FGFR2 Ivone Leong Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Structural eye disease v1.50 CRYAA Ivone Leong Phenotypes for gene: CRYAA were changed from Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219 to Cataract 9, multiple types, OMIM:604219; Anterior segment dysgenesis, MONDO:0019503; microphthalmia, MONDO:0021129
Structural eye disease v1.49 CRYAA Ivone Leong Added comment: Comment on publications: New publication added by Zornitza Stark (Australian Genomics)
Structural eye disease v1.49 CRYAA Ivone Leong Publications for gene: CRYAA were set to 30340470; 17296897; 18302245
Leber hereditary optic neuropathy v1.9 DNAJC30 Ivone Leong Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy; LHON-like to Leber hereditary optic neuropathy, MONDO:0010788; LHON-like
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Classified gene: DNAJC30 as Amber List (moderate evidence)
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Leber hereditary optic neuropathy v1.8 DNAJC30 Ivone Leong Gene: dnajc30 has been classified as Amber List (Moderate Evidence).
Leber hereditary optic neuropathy v1.7 DNAJC30 Ivone Leong Tag watchlist was removed from gene: DNAJC30.
Tag Q2_21_rating tag was added to gene: DNAJC30.
Tag Q2_21_NHS_review tag was added to gene: DNAJC30.
Disorders of sex development v2.44 NR3C1 Ivone Leong Publications for gene: NR3C1 were set to 30158362; 31995340; 19933394; 7683692; 11932321; 31145715
Disorders of sex development v2.43 NR3C1 Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715).

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Disorders of sex development v2.43 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of sex development v2.42 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of sex development v2.41 NR3C1 Ivone Leong Mode of inheritance for gene: NR3C1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Disorders of sex development v2.40 NR3C1 Ivone Leong Publications for gene: NR3C1 were set to 30158362
Disorders of sex development v2.39 NR3C1 Ivone Leong Classified gene: NR3C1 as Amber List (moderate evidence)
Disorders of sex development v2.39 NR3C1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype.

PMID:30158362 reviewed 23 index cases of patients with variants in NR3C1. There are 33 index cases as of June 2019 (PMID:31995340). PMID:30158362 found that 63% of cases showed hyperandrogenism and impaired fertility (ambiguous genitalia, hirsutism and oligomenorrhoea in females; precocious puberty and oligospermia in males). 50% cases showed hyperaldosteronism, with or without hypertensionand/or hypokalemia.

There are also 4 biallelic cases (PMID:19933394; 7683692; 11932321; 31145715).

There is enough evidence to support a gene-disease association. Therefore this gene should be rated Green at the next review.
Disorders of sex development v2.39 NR3C1 Ivone Leong Gene: nr3c1 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.38 NR3C1 Ivone Leong Tag Q2_21_rating tag was added to gene: NR3C1.
Disorders of sex development v2.38 NR3C1 Ivone Leong Phenotypes for gene: NR3C1 were changed from Glucocorticoid resistance (MIM#615962) to Glucocorticoid resistance, OMIM:615962
Paediatric motor neuronopathies v1.62 VAPB Ivone Leong Phenotypes for gene: VAPB were changed from Spinal muscular atrophy, late-onset, Finkel type 182980; Amyotrophic lateral sclerosis 8 608627 to Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980; Amyotrophic lateral sclerosis 8, OMIM:608627
Paediatric motor neuronopathies v1.61 SETX Ivone Leong Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 to Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Paediatric motor neuronopathies v1.60 REEP1 Ivone Leong Phenotypes for gene: REEP1 were changed from ?Neuronopathy, distal hereditary motor, type VB 614751 to ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751
Paediatric motor neuronopathies v1.59 HSPB8 Ivone Leong Phenotypes for gene: HSPB8 were changed from Neuropathy, distal hereditary motor, type IIA 158590 to Neuropathy, distal hereditary motor, type IIA, OMIM:158590
Paediatric motor neuronopathies v1.58 HSPB8 Ivone Leong Publications for gene: HSPB8 were set to 15122253
Paediatric motor neuronopathies v1.57 HSPB1 Ivone Leong Phenotypes for gene: HSPB1 were changed from to Neuropathy, distal hereditary motor, type IIB, OMIM:608634; Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595
Paediatric motor neuronopathies v1.56 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081; neuronopathy, distal hereditary motor, MONDO:0000075
Paediatric motor neuronopathies v1.55 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Paediatric motor neuronopathies v1.55 EXOSC8 Ivone Leong Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C 616081 to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Paediatric motor neuronopathies v1.54 ATP7A Ivone Leong Mode of inheritance for gene: ATP7A was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paediatric motor neuronopathies v1.53 ATP7A Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 to Menkes disease, OMIM:309400; Occipital horn syndrome, OMIM:304150; Spinal muscular atrophy, distal, X-linked 3, OMIM:300489
Paediatric motor neuronopathies v1.52 ALS2 Ivone Leong Phenotypes for gene: ALS2 were changed from juvenile amyotrophic lateral sclerosis-2, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Spastic paralysis, infantile onset ascending, OMIM:607225
Paediatric motor neuronopathies v1.51 VRK1 Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, OMIM:607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
Paediatric motor neuronopathies v1.51 VRK1 Ivone Leong Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A 607596 to Pontocerebellar hypoplasia type 1A, OMIM:607596
Paediatric motor neuronopathies v1.50 UBA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Infantile Spinal Muscular Atrophy, X-Linked;Spinal muscular atrophy, X-linked 2, infantile, 301830
Paediatric motor neuronopathies v1.50 UBA1 Ivone Leong Phenotypes for gene: UBA1 were changed from Infantile Spinal Muscular Atrophy, X-Linked; Spinal muscular atrophy, X-linked 2, infantile, 301830 to Spinal muscular atrophy, X-linked 2, infantile, OMIM:301830
Paediatric motor neuronopathies v1.49 UBA1 Ivone Leong Publications for gene: UBA1 were set to PMID: 23518311
Paediatric motor neuronopathies v1.48 TRPV4 Ivone Leong Phenotypes for gene: TRPV4 were changed from Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, 113500 to Distal Congenital Nonprogressive Spinal Muscular Atrophy; Brachyolmia type 3, OMIM:113500
Paediatric motor neuronopathies v1.47 SPG11 Ivone Leong Phenotypes for gene: SPG11 were changed from Amyotrophic lateral sclerosis 5, juvenile 602099 to Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Paediatric motor neuronopathies v1.46 SMN1 Ivone Leong Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150 to Spinal muscular atrophy 1, OMIM:253300; Spinal muscular atrophy 2, OMIM:253550; Spinal muscular atrophy 3, OMIM:253400; Spinal muscular atrophy 4, OMIM:271150
Paediatric motor neuronopathies v1.45 SLC52A3 Ivone Leong Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Paediatric motor neuronopathies v1.44 SLC52A2 Ivone Leong Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707
Paediatric motor neuronopathies v1.43 IGHMBP2 Ivone Leong Phenotypes for gene: IGHMBP2 were changed from Spinal muscular atrophy with respiratory distress, 604320 to Neuronopathy, distal hereditary motor, type VI, OMIM:604320
Paediatric motor neuronopathies v1.42 EXOSC3 Ivone Leong Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Paediatric motor neuronopathies v1.41 DYNC1H1 Ivone Leong Phenotypes for gene: DYNC1H1 were changed from Spinal muscular atrophy, lower extremity-predominant, AD, 158600 to Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
Paediatric motor neuronopathies v1.40 CHCHD10 Ivone Leong Phenotypes for gene: CHCHD10 were changed from Spinal muscular atrophy, Jokela type 615048 to Spinal muscular atrophy, Jokela type, OMIM:615048
Paediatric motor neuronopathies v1.39 BICD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Paediatric motor neuronopathies v1.39 BICD2 Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Paediatric motor neuronopathies v1.38 BICD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3
Paediatric motor neuronopathies v1.38 BICD2 Ivone Leong Phenotypes for gene: BICD2 were changed from Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290
Paediatric motor neuronopathies v1.37 ASAH1 Ivone Leong Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 to Spinal muscular atrophy with progressive myoclonic epilepsy, OMIM:159950
Paediatric motor neuronopathies v1.36 AR Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
Paediatric motor neuronopathies v1.36 AR Ivone Leong Phenotypes for gene: AR were changed from Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Ehlers Danlos syndromes v2.57 PIEZO2 Ivone Leong Phenotypes for gene: PIEZO2 were changed from Marden-Walker syndrome, 248700; Connective tissue disorder to ?Marden-Walker syndrome, OMIM:248700; connective tissue disease, MONDO:0003900
Ehlers Danlos syndromes v2.56 NOTCH1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Connective Tissue Disorders;Aortic valve disease 1, 109730;Familial thoracic aortic aneurysm;Bicuspid, or bicommissural, aortic valve (BAV)
Ehlers Danlos syndromes v2.56 NOTCH1 Ivone Leong Phenotypes for gene: NOTCH1 were changed from Connective Tissue Disorders; Aortic valve disease 1, 109730; Familial thoracic aortic aneurysm; Bicuspid, or bicommissural, aortic valve (BAV) to connective tissue disease, MONDO:0003900
Ehlers Danlos syndromes v2.55 MYLK Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Aortic aneurysm, familial thoracic 7, 613780;FTAA;Familial thoracic aortic aneurysm;aortic dissection with or without aortic aneurysm
Ehlers Danlos syndromes v2.55 MYLK Ivone Leong Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7, 613780; FTAA; Familial thoracic aortic aneurysm; aortic dissection with or without aortic aneurysm to Aortic aneurysm, familial thoracic 7, OMIM:613780
Ehlers Danlos syndromes v2.54 DCC Ivone Leong Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Ehlers Danlos syndromes v2.53 ACTA2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Thoracic aortic aneurysm and dissection;Aortic aneurysm, familial thoracic 6;611788;Moyamoya disease 5;614042;Thoracic aneurysms congenital mydriasis;moya moya syndrome
Ehlers Danlos syndromes v2.53 ACTA2 Ivone Leong Phenotypes for gene: ACTA2 were changed from Thoracic aortic aneurysm and dissection; Aortic aneurysm, familial thoracic 6; 611788; Moyamoya disease 5; 614042; Thoracic aneurysms congenital mydriasis; moya moya syndrome to Aortic aneurysm, familial thoracic 6, OMIM:611788
Ehlers Danlos syndromes v2.52 ABL1 Ivone Leong Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, 617602 to Congenital heart defects and skeletal malformations syndrome, OMIM:617602
Ehlers Danlos syndromes v2.51 ZNF469 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Brittle cornea syndrome 1, 229200;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
Ehlers Danlos syndromes v2.51 ZNF469 Ivone Leong Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1, 229200; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 1, OMIM:229200
Ehlers Danlos syndromes v2.50 TNXB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome due to tenascin X deficiency, 606408;Classical-like EDS;clEDS;Ehlers-Danlos syndrome, classic-like type
Ehlers Danlos syndromes v2.50 TNXB Ivone Leong Phenotypes for gene: TNXB were changed from Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; Classical-like EDS; clEDS; Ehlers-Danlos syndrome, classic-like type to Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408
Ehlers Danlos syndromes v2.49 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome 2, 610168 to Loeys-Dietz syndrome 2, OMIM:610168
Ehlers Danlos syndromes v2.48 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome 1, 609192 to Loeys-Dietz syndrome 1, OMIM:609192
Ehlers Danlos syndromes v2.47 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome 5, 615582 to Loeys-Dietz syndrome 5, OMIM:615582
Ehlers Danlos syndromes v2.46 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome 4, 614816 to Loeys-Dietz syndrome 4, OMIM:614816
Ehlers Danlos syndromes v2.45 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome 3, 613795 to Loeys-Dietz syndrome 3, OMIM:613795
Ehlers Danlos syndromes v2.44 SMAD2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Loeys-Dietz syndrome;LDS3;arterial aneurysms and dissections
Ehlers Danlos syndromes v2.44 SMAD2 Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome; LDS3; arterial aneurysms and dissections to Loeys-Dietz syndrome, MONDO:0018954
Ehlers Danlos syndromes v2.43 SLC39A13 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350;Spondylodysplastic EDS;spEDS-SLC39A13;Ehlers-Danlos Syndrome, Spondylodysplastic Type
Ehlers Danlos syndromes v2.43 SLC39A13 Ivone Leong Phenotypes for gene: SLC39A13 were changed from Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350; Spondylodysplastic EDS; spEDS-SLC39A13; Ehlers-Danlos Syndrome, Spondylodysplastic Type to Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350
Ehlers Danlos syndromes v2.42 SKI Ivone Leong Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome, 182212 to Shprintzen-Goldberg syndrome, OMIM:182212
Ehlers Danlos syndromes v2.41 ROBO3 Ivone Leong Phenotypes for gene: ROBO3 were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
Ehlers Danlos syndromes v2.40 RIN2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075;RIN2 syndrome;MACS syndrome
Ehlers Danlos syndromes v2.40 RIN2 Ivone Leong Phenotypes for gene: RIN2 were changed from Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Ehlers Danlos syndromes v2.39 PYCR1 Ivone Leong Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIIB, 614438; Cutis laxa, autosomal recessive, type IIB, 612940 to Cutis laxa, autosomal recessive, type IIIB, OMIM:614438; Cutis laxa, autosomal recessive, type IIB, OMIM:612940
Ehlers Danlos syndromes v2.38 PRDM5 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Brittle cornea syndrome 2, 614170;BCS;EDSVIB;Connective Tissue Disorders;Ehlers-Danlos syndrome type VIB;Brittle cornea syndrome
Ehlers Danlos syndromes v2.38 PRDM5 Ivone Leong Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170; BCS; EDSVIB; Connective Tissue Disorders; Ehlers-Danlos syndrome type VIB; Brittle cornea syndrome to Brittle cornea syndrome 2, OMIM:614170
Ehlers Danlos syndromes v2.37 PLOD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome, type VI, 225400;Kyphoscoliotic EDS;kEDS-PLOD1;Ocular-Scoliotic EDS
Ehlers Danlos syndromes v2.37 PLOD1 Ivone Leong Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome, type VI, 225400; Kyphoscoliotic EDS; kEDS-PLOD1; Ocular-Scoliotic EDS to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400
Ehlers Danlos syndromes v2.36 LTBP4 Ivone Leong Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 to Cutis laxa, autosomal recessive, type IC, OMIM:613177
Ehlers Danlos syndromes v2.35 LOX Ivone Leong Phenotypes for gene: LOX were changed from Aortic aneurysm, familial thoracic 10, 617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Ehlers Danlos syndromes v2.34 GORAB Ivone Leong Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 to Geroderma osteodysplasticum, OMIM:231070
Ehlers Danlos syndromes v2.33 FKBP14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, Kyphoscoliotic Form;Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557;Kyphoscoliotic EDS;kEDS-FKBP14;EDS VI;EDS VIA;Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Ehlers Danlos syndromes v2.33 FKBP14 Ivone Leong Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos Syndrome, Kyphoscoliotic Form; Ehlers Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557; Kyphoscoliotic EDS; kEDS-FKBP14; EDS VI; EDS VIA; Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Ehlers Danlos syndromes v2.32 FBN2 Ivone Leong Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital, 121050 to Contractural arachnodactyly, congenital, OMIM:121050
Ehlers Danlos syndromes v2.31 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome,154700 to Marfan syndrome, OMIM:154700
Ehlers Danlos syndromes v2.30 FBLN5 Ivone Leong Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal dominant 2, 614434; Cutis laxa, autosomal recessive, type IA, 219100 to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
Ehlers Danlos syndromes v2.29 ELN Ivone Leong Phenotypes for gene: ELN were changed from Cutis laxa, AD, 123700 to Cutis laxa, autosomal dominant, OMIM:123700
Ehlers Danlos syndromes v2.28 EFEMP2 Ivone Leong Phenotypes for gene: EFEMP2 were changed from Cutis laxa, autosomal recessive, type IB, 614437 to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Ehlers Danlos syndromes v2.27 DSE Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
?Ehlers Danlos syndrome, musculocontractural type 2, 615539;EDSMC2;Musculocontractural EDS (mcEDS-DSE);EDS Musculocontractural type;DSE-deficient EDS
Ehlers Danlos syndromes v2.27 DSE Ivone Leong Phenotypes for gene: DSE were changed from ?Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE); EDS Musculocontractural type; DSE-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Ehlers Danlos syndromes v2.26 COL6A3 Ivone Leong Phenotypes for gene: COL6A3 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndromes v2.25 COL6A2 Ivone Leong Phenotypes for gene: COL6A2 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndromes v2.24 COL6A1 Ivone Leong Phenotypes for gene: COL6A1 were changed from Bethlem myopathy 1,158810; Ullrich congenital muscular dystrophy 1,254090; Myopathic EDS to Bethlem myopathy 1,OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Ehlers Danlos syndromes v2.23 COL5A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndromes v2.23 COL5A2 Ivone Leong Phenotypes for gene: COL5A2 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 2, OMIM:130010
Ehlers Danlos syndromes v2.22 COL5A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS;cEDS;Ehlers-Danlos syndrome vascular type I;Ehlers-Danlos syndrome type II;Ehlers-Danlos syndrome, Gravis type;Ehlers-Danlos syndrome, Mitis type
Ehlers Danlos syndromes v2.22 COL5A1 Ivone Leong Phenotypes for gene: COL5A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS; cEDS; Ehlers-Danlos syndrome vascular type I; Ehlers-Danlos syndrome type II; Ehlers-Danlos syndrome, Gravis type; Ehlers-Danlos syndrome, Mitis type to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
Ehlers Danlos syndromes v2.21 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type IV, 130050;Vascular EDS;vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome
Ehlers Danlos syndromes v2.21 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Ehlers Danlos syndromes v2.20 COL1A2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIB (AD), 130060;Ehlers-Danlos Syndrome, Arthrochalasia Type;Arthrochalasia EDS;aEDS;Ehlers Danlos syndrome, cardiac valvular form (AR), 225320;Cardiac-valvular EDS;cvEDS
Ehlers Danlos syndromes v2.20 COL1A2 Ivone Leong Phenotypes for gene: COL1A2 were changed from Ehlers Danlos syndrome, type VIIB (AD), 130060; Ehlers-Danlos Syndrome, Arthrochalasia Type; Arthrochalasia EDS; aEDS; Ehlers Danlos syndrome, cardiac valvular form (AR), 225320; Cardiac-valvular EDS; cvEDS to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821; Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
Ehlers Danlos syndromes v2.19 COL1A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome, classic type, 130000;Classical EDS (rare);cEDS;Ehlers-Danlos syndrome, type VIIA, 130060;Arthrochalasia EDS;aEDS;Vascular EDS (rare);vEDS
Ehlers Danlos syndromes v2.19 COL1A1 Ivone Leong Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic type, 130000; Classical EDS (rare); cEDS; Ehlers-Danlos syndrome, type VIIA, 130060; Arthrochalasia EDS; aEDS; Vascular EDS (rare); vEDS to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115
Ehlers Danlos syndromes v2.18 COL12A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Myopathic EDS;mEDS;EDS/Myopathy overlap syndrome;Ehlers-Danlos syndrome, Myopathic type
Ehlers Danlos syndromes v2.18 COL12A1 Ivone Leong Phenotypes for gene: COL12A1 were changed from Myopathic EDS; mEDS; EDS/Myopathy overlap syndrome; Ehlers-Danlos syndrome, Myopathic type to Bethlem myopathy 2, OMIM:616471
Ehlers Danlos syndromes v2.17 CHST14 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, musculocontractural type 1, 601776;EDSMC1;Musculocontractural EDS;mcEDS-CHST14;Adducted thumb-club foot syndrome (ATCS);EDS Kosho type (EDS-KT);D4ST1-deficient EDS
Ehlers Danlos syndromes v2.17 CHST14 Ivone Leong Phenotypes for gene: CHST14 were changed from Ehlers Danlos syndrome, musculocontractural type 1, 601776; EDSMC1; Musculocontractural EDS; mcEDS-CHST14; Adducted thumb-club foot syndrome (ATCS); EDS Kosho type (EDS-KT); D4ST1-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776
Ehlers Danlos syndromes v2.16 CBS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Homocystinuria, B6-responsive and nonresponsive types, 236200;Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency;Homocystinuria;Thrombosis, hyperhomocysteinemic
Ehlers Danlos syndromes v2.16 CBS Ivone Leong Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200; Homocystinuria Due To Cystathionine Beta‐Synthase Deficiency; Homocystinuria; Thrombosis, hyperhomocysteinemic to Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200
Ehlers Danlos syndromes v2.15 C1S Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 2, 617174;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII
Ehlers Danlos syndromes v2.15 C1S Ivone Leong Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome periodontal type 2, 617174; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII to Ehlers-Danlos syndrome, periodontal type, 2, OMIM:617174
Ehlers Danlos syndromes v2.14 C1R Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome periodontal type 1, 130080;Periodontal Ehlers-Danlos syndrome;Periodontal EDS;pEDS;EDS type VIII;Ehlers-Danlos Syndrome periodontitis type;EDSVIII;EDSPD1
Ehlers Danlos syndromes v2.14 C1R Ivone Leong Phenotypes for gene: C1R were changed from Ehlers-Danlos syndrome periodontal type 1, 130080; Periodontal Ehlers-Danlos syndrome; Periodontal EDS; pEDS; EDS type VIII; Ehlers-Danlos Syndrome periodontitis type; EDSVIII; EDSPD1 to Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080
Ehlers Danlos syndromes v2.13 BGN Ivone Leong Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 to Meester-Loeys syndrome, OMIM:300989
Ehlers Danlos syndromes v2.12 B4GALT7 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS;spEDS-B4GALT7;Progeroid EDS;Spondylodysplastic EDS due to B4GALT7-deficiency;EDS progeroid type;Ehlers Danlos syndrome, progeroid type 1
Ehlers Danlos syndromes v2.12 B4GALT7 Ivone Leong Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS; spEDS-B4GALT7; Progeroid EDS; Spondylodysplastic EDS due to B4GALT7-deficiency; EDS progeroid type; Ehlers Danlos syndrome, progeroid type 1 to Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070
Ehlers Danlos syndromes v2.11 B3GALT6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, progeroid type, 2, 615349;Spondylodysplastic EDS;spEDS-B3GALT6;Progeroid EDS;Spondylodysplastic EDS due to B3GALT6-deficiency;EDS progeroid type 2;EDS B3GALT6
Ehlers Danlos syndromes v2.11 B3GALT6 Ivone Leong Phenotypes for gene: B3GALT6 were changed from Ehlers Danlos syndrome, progeroid type, 2, 615349; Spondylodysplastic EDS; spEDS-B3GALT6; Progeroid EDS; Spondylodysplastic EDS due to B3GALT6-deficiency; EDS progeroid type 2; EDS B3GALT6 to Ehlers-Danlos syndrome, spondylodysplastic type, 2, OMIM:615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, OMIM:271640
Ehlers Danlos syndromes v2.10 ATP7A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Menkes disease, OMIM:309400, Connective Tissues Disorders and Cutis laxa
Ehlers Danlos syndromes v2.10 ATP7A Ivone Leong Phenotypes for gene: ATP7A were changed from Menkes disease, 309400; Occipital horn syndrome, 304150; Connective Tissues Disorders; Cutis laxa to Occipital horn syndrome, OMIM:304150
Ehlers Danlos syndromes v2.9 ATP6V1A Ivone Leong Phenotypes for gene: ATP6V1A were changed from Cutis laxa, autosomal recessive, type IID, 617403 to Cutis laxa, autosomal recessive, type IID, OMIM:617403
Ehlers Danlos syndromes v2.8 ATP6V0A2 Ivone Leong Phenotypes for gene: ATP6V0A2 were changed from Cutis laxa, autosomal recessive, type IIA, 219200; Wrinkly skin syndrome, 278250 to Cutis laxa, autosomal recessive, type IIA, OMIM:219200; Wrinkly skin syndrome, OMIM:278250
Ehlers Danlos syndromes v2.7 ALDH18A1 Ivone Leong Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603 to Cutis laxa, autosomal recessive, type IIIA, OMIM:219150; Cutis laxa, autosomal dominant 3, OMIM:616603
Ehlers Danlos syndromes v2.6 AEBP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome type;EDS type;Part of the EDS spectrum
Ehlers Danlos syndromes v2.6 AEBP1 Ivone Leong Phenotypes for gene: AEBP1 were changed from Ehlers-Danlos syndrome type; EDS type; Part of the EDS spectrum to Ehlers-Danlos syndrome, classic-like, 2, OMIM:618000
Ehlers Danlos syndromes v2.5 ADAMTS2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type VIIC, 225410;Ehlers-Danlos Syndrome, Dermatosparaxis Type;Dermatosparaxis EDS;dEDS;EDSVIIC;EDS7C
Ehlers Danlos syndromes v2.5 ADAMTS2 Ivone Leong Phenotypes for gene: ADAMTS2 were changed from Ehlers Danlos syndrome, type VIIC, 225410; Ehlers-Danlos Syndrome, Dermatosparaxis Type; Dermatosparaxis EDS; dEDS; EDSVIIC; EDS7C to Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh edited their review of gene: CLCN6: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three de novo occurrances of a single variant reported.; Changed rating: GREEN
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLCN6.
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Classified gene: CLCN6 as Amber List (moderate evidence)
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Neuronal ceroid lipofuscinosis v1.23 CLCN6 Sarah Leigh Gene: clcn6 has been classified as Amber List (Moderate Evidence).
Neuronal ceroid lipofuscinosis v1.22 CLCN6 Sarah Leigh Mode of inheritance for gene: CLCN6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neuronal ceroid lipofuscinosis v1.21 CLCN6 Sarah Leigh Added comment: Comment on phenotypes: There is no Mondo term for this phenotype at present
Neuronal ceroid lipofuscinosis v1.21 CLCN6 Sarah Leigh Phenotypes for gene: CLCN6 were changed from to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Neuronal ceroid lipofuscinosis v1.20 CLCN6 Sarah Leigh Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116
Neuronal ceroid lipofuscinosis v1.19 GRN Sarah Leigh Phenotypes for gene: GRN were changed from to Ceroid lipofuscinosis, neuronal, 11 OMIM:614706; neuronal ceroid lipofuscinosis 11 MONDO:0013866
Neuronal ceroid lipofuscinosis v1.18 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Neuronal ceroid lipofuscinosis v1.17 PPT1 Sarah Leigh Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
Neuronal ceroid lipofuscinosis v1.16 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Neuronal ceroid lipofuscinosis v1.15 KCTD7 Sarah Leigh Phenotypes for gene: KCTD7 were changed from to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726; progressive myoclonic epilepsy type 3 MONDO:0012721
Neuronal ceroid lipofuscinosis v1.14 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Neuronal ceroid lipofuscinosis v1.13 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Neuronal ceroid lipofuscinosis v1.12 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
Neuronal ceroid lipofuscinosis v1.11 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Lysosomal storage disorder v1.68 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Neuronal ceroid lipofuscinosis v1.10 CLN8 Sarah Leigh Phenotypes for gene: CLN8 were changed from to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
Neuronal ceroid lipofuscinosis v1.9 CLN6 Sarah Leigh Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768
Ocular coloboma v1.43 FZD5 Ivone Leong Classified gene: FZD5 as Green List (high evidence)
Ocular coloboma v1.43 FZD5 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM.

This gene is Amber on the Structural eye disease panel (Version 1.48) with the following review and a recommendation for this gene to be promoted to Green:

"Liu et al identified a rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. Aubert-Mucca et al. 2020: novel variants in three independent families.
Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29

RH 1. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma Liu et al Hum Mol Genet. 2016 Apr 1; 25(7): 13821391. Rare heterozygous mutation cosegregating with coloboma. Zebrafish model showing role of gene in the phenotype. UNFORNATELY, THERE ARE NO OTHER REPORTS, SO IT FALLS ONE GOOD MUTATION SHORT PF BEING GREEN. WOULD PROBABLY BE A GOOD AMBER OPTION, BUT I DON'T GET THAT OPTION IN THE RATING COLUMN...
Created: 19 Jun 2019, 3:32 p.m."

There is enough evidence for this gene to be Green.
Ocular coloboma v1.43 FZD5 Ivone Leong Gene: fzd5 has been classified as Green List (High Evidence).
Neuronal ceroid lipofuscinosis v1.8 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Neuronal ceroid lipofuscinosis v1.7 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
Neuronal ceroid lipofuscinosis v1.6 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975 to Kufor-Rakeb syndrome OMIM:606693; Kufor-Rakeb syndrome MONDO:0011706
Cataracts v2.65 NSUN2 Ivone Leong Classified gene: NSUN2 as Red List (low evidence)
Cataracts v2.65 NSUN2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.
Cataracts v2.65 NSUN2 Ivone Leong Gene: nsun2 has been classified as Red List (Low Evidence).
Cataracts v2.64 NSUN2 Ivone Leong Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, MIM# 611091; cataracts to Mental retardation, autosomal recessive 5, OMIM:611091; cataracts
Neuronal ceroid lipofuscinosis v1.5 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Disorders of sex development v2.37 MYRF Ivone Leong Classified gene: MYRF as Amber List (moderate evidence)
Disorders of sex development v2.37 MYRF Ivone Leong Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association and this gene should be promoted to Green at the next review.
Disorders of sex development v2.37 MYRF Ivone Leong Gene: myrf has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.36 MYRF Ivone Leong Tag Q2_21_rating tag was added to gene: MYRF.
Disorders of sex development v2.36 MYRF Ivone Leong Phenotypes for gene: MYRF were changed from Cardiac-urogenital syndrome; gonadal hypoplasia; Müllerian duct hypoplasia to Cardiac-urogenital syndrome, OMIM:618280; gonadal hypoplasia; Mullerian duct hypoplasia
Disorders of sex development v2.35 ESR2 Ivone Leong Classified gene: ESR2 as Amber List (moderate evidence)
Disorders of sex development v2.35 ESR2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Disorders of sex development v2.35 ESR2 Ivone Leong Gene: esr2 has been classified as Amber List (Moderate Evidence).
Disorders of sex development v2.34 ESR2 Ivone Leong Tag watchlist tag was added to gene: ESR2.
Disorders of sex development v2.34 ESR2 Ivone Leong Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187 to 46,XY disorder of sex development, MONDO:0020040; ?Ovarian dysgenesis 8, OMIM:618187
Disorders of sex development v2.33 ESR2 Ivone Leong Phenotypes for gene: ESR2 were changed from 46,XY disorder of sex development; Ovarian dysgenesis 8, MIM# 618187 to 46,XY disorder of sex development, MONDO:0020040; Ovarian dysgenesis 8, OMIM:618187
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Deleted their comment
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh changed review comment from: Comment on phenotypes: There is no formal gene / disease association for PDP2.; to: Comment on phenotypes: There is no formal gene / disease association for PDP2, but pyruvate dehydrogenase deficiency MONDO:0019169 seemed a good generic phenotype for this gene.
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Added comment: Comment on phenotypes: There is no formal gene / disease association for PDP2.
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Phenotypes for gene: PDP2 were changed from to pyruvate dehydrogenase deficiency MONDO:0019169
Pyruvate dehydrogenase (PDH) deficiency v1.28 TPK1 Sarah Leigh Phenotypes for gene: TPK1 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458; childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761
Pyruvate dehydrogenase (PDH) deficiency v1.27 SLC25A26 Sarah Leigh Phenotypes for gene: SLC25A26 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794; combined oxidative phosphorylation deficiency 28 MONDO:0014775
Pyruvate dehydrogenase (PDH) deficiency v1.26 SLC25A19 Sarah Leigh Phenotypes for gene: SLC25A19 were changed from MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 to MICROCEPHALY, AMISH TYPEOMIM:607196; Amish lethal microcephaly MONDO:0011790; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710; progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
Pyruvate dehydrogenase (PDH) deficiency v1.25 SLC19A3 Sarah Leigh Phenotypes for gene: SLC19A3 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) OMIM:607483; biotin-responsive basal ganglia disease MONDO:0011841
Pyruvate dehydrogenase (PDH) deficiency v1.24 SLC19A2 Sarah Leigh Phenotypes for gene: SLC19A2 were changed from THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270 to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM:249270; thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Pyruvate dehydrogenase (PDH) deficiency v1.23 PDP1 Sarah Leigh Phenotypes for gene: PDP1 were changed from PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782; pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
Pyruvate dehydrogenase (PDH) deficiency v1.22 PDHX Sarah Leigh Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349 to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY OMIM:245349; pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503
Pyruvate dehydrogenase (PDH) deficiency v1.21 PDHB Sarah Leigh Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580
Pyruvate dehydrogenase (PDH) deficiency v1.20 PDHA1 Sarah Leigh Phenotypes for gene: PDHA1 were changed from PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170; pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
Pyruvate dehydrogenase (PDH) deficiency v1.19 NFU1 Sarah Leigh Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 OMIM:605711; multiple mitochondrial dysfunctions syndrome 1 MONDO:0011582
Pyruvate dehydrogenase (PDH) deficiency v1.18 LONP1 Sarah Leigh Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 to CODAS syndrome OMIM:600373; CODAS syndrome MONDO:0010879
Pneumothorax - familial v2.37 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 4, OMIM:614816
Pneumothorax - familial v2.36 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 5, OMIM:615582
Pyruvate dehydrogenase (PDH) deficiency v1.17 LIPT2 Sarah Leigh Phenotypes for gene: LIPT2 were changed from ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668; encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562
Pneumothorax - familial v2.35 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax - familial v2.34 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax - familial v2.33 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 3, 613795 to Pulmonary emphysema, MONDO:0004849; Loeys-Dietz syndrome type 3, OMIM:613795
Pneumothorax - familial v2.32 SMAD2 Ivone Leong Phenotypes for gene: SMAD2 were changed from Loeys-Dietz syndrome to Loeys-Dietz syndrome,MONDO:0018954
Pneumothorax - familial v2.31 TSC2 Ivone Leong Phenotypes for gene: TSC2 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 2, 613254 to Lymphangioleiomyomatosis, MONDO:0011705; Tuberous sclerosis-2, OMIM:613254
Pyruvate dehydrogenase (PDH) deficiency v1.16 LIPT1 Sarah Leigh Phenotypes for gene: LIPT1 were changed from LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 to LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299; lipoyl transferase 1 deficiency MONDO:0014576
Pneumothorax - familial v2.30 TSC1 Ivone Leong Phenotypes for gene: TSC1 were changed from Lymphangioleiomyomatosis (LAM); Tuberous sclerosis complex (TSC); Lymphangioleiomyomatosis; Tuberous sclerosis 1, 191100 to Lymphangioleiomyomatosis, OMIM:606690; Tuberous sclerosis-1, OMIM:191100
Pyruvate dehydrogenase (PDH) deficiency v1.15 ISCA2 Sarah Leigh Publications for gene: ISCA2 were set to
Pneumothorax - familial v2.29 TGFBR2 Ivone Leong Phenotypes for gene: TGFBR2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome type 2, 610168 to Pulmonary emphysema; Loeys-Dietz syndrome type 2, OMIM:610168
Pneumothorax - familial v2.28 TGFBR1 Ivone Leong Phenotypes for gene: TGFBR1 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 1, 609192 to Pulmonary emphysema; Loeys-Dietz syndrome 1, OMIM:609192
Pneumothorax - familial v2.27 TGFB3 Ivone Leong Phenotypes for gene: TGFB3 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 5, 615582 to Pulmonary emphysema; Loeys-Dietz syndrome 5, OMIM:615582
Pyruvate dehydrogenase (PDH) deficiency v1.14 ISCA2 Sarah Leigh Phenotypes for gene: ISCA2 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370; multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611
Pneumothorax - familial v2.26 TGFB2 Ivone Leong Phenotypes for gene: TGFB2 were changed from Loeys-Dietz syndrome; Pulmonary emphysema; Loeys-Dietz syndrome 4, 614816 to Pulmonary emphysema; Loeys-Dietz syndrome 4, OMIM:614816
Pyruvate dehydrogenase (PDH) deficiency v1.13 ISCA1 Sarah Leigh Publications for gene: ISCA1 were set to 29767723; PMID: 28356563
Pyruvate dehydrogenase (PDH) deficiency v1.12 ISCA1 Sarah Leigh Phenotypes for gene: ISCA1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613; multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282
Pneumothorax - familial v2.25 SERPINA1 Ivone Leong Phenotypes for gene: SERPINA1 were changed from Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency; Emphysema/cirrhosis due to AAT deficiency, 613490 to Emphysema due to AAT deficiency, OMIM:613490; Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490
Pyruvate dehydrogenase (PDH) deficiency v1.11 IBA57 Sarah Leigh Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM:615330; multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132
Pyruvate dehydrogenase (PDH) deficiency v1.10 HIBCH Sarah Leigh Phenotypes for gene: HIBCH were changed from 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620; 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Pyruvate dehydrogenase (PDH) deficiency v1.9 GLRX5 Sarah Leigh Phenotypes for gene: GLRX5 were changed from SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA OMIM:616859; spasticity-ataxia-gait anomalies syndrome MONDO:0014803; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY OMIM:616860; sideroblastic anemia 3 MONDO:0014804
Pyruvate dehydrogenase (PDH) deficiency v1.8 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Pyruvate dehydrogenase (PDH) deficiency v1.7 ECHS1 Sarah Leigh Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563
Pyruvate dehydrogenase (PDH) deficiency v1.6 DLD Sarah Leigh Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY OMIM:246900; pyruvate dehydrogenase E3 deficiency MONDO:0009529
Pyruvate dehydrogenase (PDH) deficiency v1.5 DLAT Sarah Leigh Phenotypes for gene: DLAT were changed from PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348 to PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM:245348; pyruvate dehydrogenase E2 deficiency MONDO:0009502
Pyruvate dehydrogenase (PDH) deficiency v1.4 BOLA3 Sarah Leigh Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA OMIM:614299; multiple mitochondrial dysfunctions syndrome 2 MONDO:0013675
Non-acute porphyrias v1.21 GATA1 Sarah Leigh Phenotypes for gene: GATA1 were changed from Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367; Congenital erythropoietic porphyria to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM:300367; thrombocytopenia, X-linked, with or without dyserythropoietic anemia MONDO:0010308
Pneumothorax - familial v2.24 FLCN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Primary Spontaneous Pneumothorax, 173600;Birt-Hogg-Dube Syndrome, 135150;Birt-Hogg-Dube syndrome;Spontaneous Pneumothorax;Birt-Hogg-Dube Syndrome
Pneumothorax - familial v2.24 FLCN Ivone Leong Phenotypes for gene: FLCN were changed from Primary Spontaneous Pneumothorax, 173600; Birt-Hogg-Dube Syndrome, 135150; Birt-Hogg-Dube syndrome; Spontaneous Pneumothorax; Birt-Hogg-Dube Syndrome to Pneumothorax, primary spontaneous, OMIM:173600; Birt-Hogg-Dube Syndrome, OMIM:135150
Pneumothorax - familial v2.23 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome, 154700 to Marfan syndrome, OMIM:154700
Non-acute porphyrias v1.20 UROS Sarah Leigh Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) to Porphyria, congenital erythropoietic OMIM:263700; cutaneous porphyria MONDO:0009902
Pneumothorax - familial v2.22 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos Syndrome, type IV;Ehlers-Danlos syndrome, vascular type, 130050
Pneumothorax - familial v2.22 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos Syndrome, type IV; Ehlers-Danlos syndrome, vascular type, 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Non-acute porphyrias v1.19 UROS Sarah Leigh Publications for gene: UROS were set to 27604308
Pneumothorax - familial v2.21 COL3A1 Ivone Leong Publications for gene: COL3A1 were set to 26666608; 25940258; 9147885 (review); 7369469
Non-acute porphyrias v1.18 UROD Sarah Leigh Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296
Surfactant deficiency v1.9 SFTPA2 Ivone Leong Phenotypes for gene: SFTPA2 were changed from Pulmonary fibrosis, idiopathic, 178500 to Pulmonary fibrosis, idiopathic, OMIM:178500
Surfactant deficiency v1.8 SFTPC Ivone Leong Phenotypes for gene: SFTPC were changed from Surfactant metabolism dysfunction, pulmonary 2, 610913 to Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913
Surfactant deficiency v1.7 SFTPB Ivone Leong Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary 1, 265120 to Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120
Surfactant deficiency v1.6 NKX2-1 Ivone Leong Phenotypes for gene: NKX2-1 were changed from Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 to Neuroendocrine cell hyperplasia of infancy; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Surfactant deficiency v1.5 ABCA3 Ivone Leong Phenotypes for gene: ABCA3 were changed from Surfactant metabolism dysfunction, pulmonary 3, 610921 to Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921
Non-acute porphyrias v1.17 UROD Sarah Leigh Publications for gene: UROD were set to 27604308
Skeletal muscle channelopathy v1.21 SCN4A Eleanor Williams commented on gene: SCN4A
Non-acute porphyrias v1.16 PPOX Sarah Leigh Phenotypes for gene: PPOX were changed from Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 to Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297
Severe early-onset obesity v2.37 TUB Ivone Leong Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, 616188 to ?Retinal dystrophy and obesity, OMIM:616188
Severe early-onset obesity v2.36 SH2B1 Ivone Leong Phenotypes for gene: SH2B1 were changed from obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency to obesity; Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994
Severe early-onset obesity v2.35 INPP5E Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Joubert syndrome 1, OMIM:213300
Severe early-onset obesity v2.35 INPP5E Ivone Leong Phenotypes for gene: INPP5E were changed from Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Joubert syndrome 1, 213300 to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Severe early-onset obesity v2.34 CEP290 Ivone Leong Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
Severe early-onset obesity v2.33 VPS13B Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Obesity;Cohen syndrome, OMIM:216550;Cohen syndrome;Truncal obesity developing in mid-childhood
Severe early-onset obesity v2.33 VPS13B Ivone Leong Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, 216550; Cohen syndrome; Truncal obesity developing in mid-childhood to Obesity; Cohen syndrome, OMIM:216550
Severe early-onset obesity v2.32 TTC8 Ivone Leong Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, 615985; Bardet-Biedl syndrome 8 to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
Severe early-onset obesity v2.31 SIM1 Ivone Leong Phenotypes for gene: SIM1 were changed from Obesity, severe, 601665; obesity; Congenital Obesity to obesity; Congenital Obesity
Non-acute porphyrias v1.15 HMBS Sarah Leigh Publications for gene: HMBS were set to 27604308
Non-acute porphyrias v1.14 HMBS Sarah Leigh Phenotypes for gene: HMBS were changed from Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294
Severe early-onset obesity v2.30 SIM1 Ivone Leong Added comment: Comment on publications: 25805767;24814368 (functional evidence);24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet;24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type;23778139 - case-control study, variable penetrance of the variants in extended family studies;23778136;16924270
Severe early-onset obesity v2.30 SIM1 Ivone Leong Publications for gene: SIM1 were set to 25805767; 24814368 (functional evidence); 24260538 - SIM1 deficient mice exhibit early onset obesity and increased sensitivity to a high fat diet; 24097297 - rare variants identified in obese individuals that resulted in a a decrease in transcriptional activity was observed, and rare variants identified in lean individuals had transcriptional activity similar to wild type; 23778139 - case-control study, variable penetrance of the variants in extended family studies; 23778136; 16924270
Severe early-onset obesity v2.29 SDCCAG8 Ivone Leong Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16; Bardet-Biedl syndrome 16, 615993 to Obesity; Bardet-Biedl syndrome 16, OMIM:615993
Severe early-onset obesity v2.28 POMC Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
{Obesity, early-onset, susceptibility to}, 601665;Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734;Congenital Obesity;{Obesity, early-onset, susceptibility to}, 601665
Severe early-onset obesity v2.28 POMC Ivone Leong Phenotypes for gene: POMC were changed from {Obesity, early-onset, susceptibility to}, 601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; Congenital Obesity; {Obesity, early-onset, susceptibility to}, 601665 to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Non-acute porphyrias v1.13 FECH Sarah Leigh Phenotypes for gene: FECH were changed from Erythropoietic Protoporphyria; Protoporphyria, erythropoietic, autosomal recessive, 177000 to Protoporphyria, erythropoietic,1 OMIM:177000; protoporphyria, erythropoietic, 1 MONDO:0008319
Skeletal muscle channelopathy v1.21 CACNA1S Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant) to Congenital myopathy, MONDO:0019952; Hypokalaemic periodic paralysis, type I, OMIM:170400
Skeletal muscle channelopathy v1.20 CACNA1S Eleanor Williams commented on gene: CACNA1S
Non-acute porphyrias v1.12 CPOX Sarah Leigh Deleted their comment
Non-acute porphyrias v1.12 CPOX Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria OMIM:618892; harderoporphyria MONDO:0030048; Coproporphyria OMIM:121300; hereditary coproporphyria MONDO:0007369
Non-acute porphyrias v1.11 CPOX Sarah Leigh Added comment: Comment on phenotypes: Harderoporphyria OMIM:618892;harderoporphyria MONDO:0030048;Coproporphyria OMIM:121300;hereditary coproporphyria MONDO:0007369
Non-acute porphyrias v1.11 CPOX Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias)
Non-acute porphyrias v1.10 CPOX Sarah Leigh Publications for gene: CPOX were set to 27604308
Non-acute porphyrias v1.9 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from Protoporphyria, erythropoietic, X-linked, 300752; Anemia, sideroblastic, X-linked, 300751 to Protoporphyria, erythropoietic, X-linked OMIM:300752; X-linked erythropoietic protoporphyria MONDO:0010420; Anemia, sideroblastic, X-linked OMIM:300751; X-linked sideroblastic anemia 1 MONDO:0020721
Non-acute porphyrias v1.8 ALAD Sarah Leigh Publications for gene: ALAD were set to 27604308
Non-acute porphyrias v1.7 ALAD Sarah Leigh Phenotypes for gene: ALAD were changed from Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) to Porphyria, acute hepatic OMIM:612740; porphyria due to ALA dehydratase deficiency MONDO:0013000
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Classified gene: VPS33A as Amber List (moderate evidence)
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least one variant was reported in two Turkish sisters (PMID 27547915) and in the Yakut population in the Russian Federation (PMID 28013294), where haplotype evidence suggested a founder effect. Supportive functional studies were also presented (PMID 31070736).
Lysosomal storage disorder v1.67 VPS33A Sarah Leigh Gene: vps33a has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.66 VPS33A Sarah Leigh Publications for gene: VPS33A were set to 28013294; 27547915
Lysosomal storage disorder v1.65 VPS33A Sarah Leigh Phenotypes for gene: VPS33A were changed from Mucopolysaccharidosis-plus syndrome (MIM#617303) to Mucopolysaccharidosis-plus syndrome OMIM:617303; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Lysosomal storage disorder v1.64 CTSF Sarah Leigh Publications for gene: CTSF were set to 28749476; 27668283; 27524508
Lysosomal storage disorder v1.63 CTSF Sarah Leigh edited their review of gene: CTSF: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine variants reported in at least seven unrelated cases.; Changed rating: GREEN
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Tag Q2_21_rating tag was added to gene: CTSF.
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Classified gene: CTSF as Amber List (moderate evidence)
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.63 CTSF Sarah Leigh Gene: ctsf has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.62 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 to Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362; neuronal ceroid lipofuscinosis 13 MONDO:0014147
Skeletal muscle channelopathy v1.20 SLC2A1 Eleanor Williams Phenotypes for gene: SLC2A1 were changed from Epilepsy, idiopathic generalized, susceptibility to, 12, 614847; Can resemble skeletal muscle channelopathy; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (recessive and dominant).; GLUT1 deficiency syndrome 2, childhood onset, 612126 to Epilepsy, idiopathic generalized, susceptibility to, 12, OMIM:614847; GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777; GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
Skeletal muscle channelopathy v1.19 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300; Congenital myopathy MONDO:0019952.
Skeletal muscle channelopathy v1.18 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy MONDO:0019952.
Skeletal muscle channelopathy v1.17 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis, type 2 OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
Skeletal muscle channelopathy v1.16 SCN4A Eleanor Williams Phenotypes for gene: SCN4A were changed from Hypokalemic periodic paralysis, type 2 (613345); Dominant: Hyperkalemic periodic paralysis (170500); Paramyotonia congenita (168300). Recessive: Congenital myopathy. to Hypokalemic periodic paralysis, type 2 OMIM:613345; Dominant: Hyperkalemic periodic paralysis OMIM:170500; Paramyotonia congenita OMIM:168300. Recessive: Congenital myopathy.
Skeletal muscle channelopathy v1.15 RYR1 Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant) to Central core disease, OMIM:117000 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Skeletal muscle channelopathy v1.14 RYR1 Eleanor Williams Phenotypes for gene: RYR1 were changed from Central core disease , 11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, 255320 (recessive); Malignant hyperthermia susceptibility 1, 145600 (Dominant) to Central core disease, OMIM:11700 (Dominant & recessive); Minicore myopathy with external ophthalmoplegia, OMIM:255320 (recessive); Malignant hyperthermia susceptibility 1, OMIM:145600 (Dominant)
Skeletal muscle channelopathy v1.13 PYGM Eleanor Williams Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Tag Q2_21_rating tag was added to gene: ATP13A2.
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh edited their review of gene: ATP13A2: Added comment: Associated with relevant phenotype in OMIM and as both RD and IF Gen2Phen gene for Parkinson disease 9. At least five variants reported in at least five unrelated cases, together with supportive functional studies.; Changed rating: GREEN
Skeletal muscle channelopathy v1.12 KCNA1 Eleanor Williams Phenotypes for gene: KCNA1 were changed from Episodic ataxia type 1/myokymia syndrome, 160120 to Episodic ataxia type 1/myokymia syndrome OMIM:160120
Skeletal muscle channelopathy v1.11 CLCN1 Eleanor Williams Phenotypes for gene: CLCN1 were changed from Myotonia congenita, dominant, 160800; Myotonia congenita, recessive, 255700 to Myotonia congenita, dominant OMIM:160800; Myotonia congenita, recessive OMIM:255700
Skeletal muscle channelopathy v1.10 CACNA1S Eleanor Williams Phenotypes for gene: CACNA1S were changed from Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I, 170400 (Dominant) to Congenital myopathy (Dominant & recessive); Hypokalaemic periodic paralysis, type I OMIM:170400 (Dominant)
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Classified gene: ATP13A2 as Amber List (moderate evidence)
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.61 ATP13A2 Sarah Leigh Gene: atp13a2 has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.60 ATP13A2 Sarah Leigh Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, MIM# 617225 to Spastic paraplegia 78, autosomal recessive OMIM:617225; autosomal recessive spastic paraplegia type 78 MONDO:0014975
Lysosomal storage disorder v1.59 TPP1 Sarah Leigh Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2 204500 to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
Lysosomal storage disorder v1.58 SUMF1 Sarah Leigh Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency OMIM:272200; mucosulfatidosis MONDO:0010088
Lysosomal storage disorder v1.57 SMPD1 Sarah Leigh Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A 257200; Niemann-Pick disease, type B 607616 to Niemann-Pick disease, type A OMIM:257200; Niemann-Pick disease type A MONDO:0009756; Niemann-Pick disease, type B OMIM:607616; Niemann-Pick disease type B MONDO:0011871
Lysosomal storage disorder v1.56 SLC17A5 Sarah Leigh Phenotypes for gene: SLC17A5 were changed from Salla disease 604369; Sialic acid storage disorder, infantile 269920 to Salla disease OMIM:604369; Salla disease MONDO:0011449; Sialic acid storage disorder, infantile OMIM:269920; free sialic acid storage disease, infantile form MONDO:0010027
Lysosomal storage disorder v1.55 SGSH Sarah Leigh Phenotypes for gene: SGSH were changed from Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900 to Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900; Sanfilippo syndrome type A MONDO:0009655
Lysosomal storage disorder v1.54 PSAP Sarah Leigh Phenotypes for gene: PSAP were changed from Krabbe disease, atypical 611722; Combined SAP deficiency 611721; Gaucher disease, atypical 610539; Metachromatic leukodystrophy due to SAP-b deficiency 249900 to Krabbe disease, atypical OMIM:611722; Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720; Combined SAP deficiency OMIM:611721; encephalopathy due to prosaposin deficiency MONDO:0012719; Gaucher disease, atypical OMIM:610539; atypical Gaucher disease due to saposin C deficiency MONDO:0012517; Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900; metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590
Lysosomal storage disorder v1.53 PPT1 Sarah Leigh Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1 256730 to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
Lysosomal storage disorder v1.52 NPC2 Sarah Leigh Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2 607625 to Niemann-pick disease, type C2 OMIM:607625; Niemann-Pick disease, type C2 MONDO:0011873
Lysosomal storage disorder v1.51 NPC1 Sarah Leigh Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type D 257220; Niemann-Pick disease, type C1 257220 to Niemann-Pick disease, type D OMIM:257220; Niemann-Pick disease, type C1 OMIM:257220; Niemann-Pick disease, type C1 MONDO:0009757
Lysosomal storage disorder v1.50 NEU1 Sarah Leigh Phenotypes for gene: NEU1 were changed from Sialidosis, type II 256550; Sialidosis, type I 256550 to Sialidosis, type II OMIM:256550; Sialidosis, type I OMIM:256550; sialidosis type 2 MONDO:0009738
Lysosomal storage disorder v1.49 NAGLU Sarah Leigh Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920 to Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920; Sanfilippo syndrome type B MONDO:0009656
Lysosomal storage disorder v1.48 NAGA Sarah Leigh Phenotypes for gene: NAGA were changed from Schindler disease, type I 609241; Schindler disease, type III 609241 to Schindler disease, type I OMIM:609241; Schindler disease, type III OMIM:609241; alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221; Kanzaki disease OMIM:609242; alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222
Severe early-onset obesity v2.27 PHF6 Ivone Leong Phenotypes for gene: PHF6 were changed from Obesity; Borjeson-Forssman-Lehmann syndrome, 301900; Borjeson-Forssman-Lehmann syndrome to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Severe early-onset obesity v2.26 PCSK1 Ivone Leong Phenotypes for gene: PCSK1 were changed from {Obesity, susceptibility to, BMIQ12}, 612362; Congenital Obesity; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 to {Obesity, susceptibility to, BMIQ12}, OMIM:612362; Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
Severe early-onset obesity v2.25 NTRK2 Ivone Leong Added comment: Comment on publications: 16702999 functional studies;27884935;29100083;24950379 GWAS found signals close to this gene associated with birth weight;26727462 association with physical activity score;26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference;15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Severe early-onset obesity v2.25 NTRK2 Ivone Leong Publications for gene: NTRK2 were set to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Severe early-onset obesity v2.24 NTRK2 Ivone Leong Phenotypes for gene: NTRK2 were changed from Obesity, hyperphagia, and developmental delay, 613886; Congenital Obesity to Obesity, hyperphagia, and developmental delay, OMIM:613886
Severe early-onset obesity v2.23 MYT1L Ivone Leong Added comment: Comment on publications: 26240977 - patient with normal weight at 4.5 years of age;
25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”;25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN);24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity;21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
Severe early-onset obesity v2.23 MYT1L Ivone Leong Publications for gene: MYT1L were set to 26240977 - patient with normal weight at 4.5 years of age; 25232846 - In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L - PMID: 26240977 comments on this article “Although overweight in patients with MYT1L haploinsufficiency was previously described as an early-onset feature, we cannot reject the possibility that our patient will develop obesity in late childhood, as occurs in other patients. On the other hand, taking into account the World Health Organization definition of overweight and obesity based on both weight and body mass index, it is remarkable that of the four patients with alteration affecting exclusively MYT1L who were described by De Rocker et al. (PMID:25232846), only patient 10, with a body mass index > 30 kg/m2, strictly meets these criteria.”; 25126114 - 2p25.3 de novo terminal deletion of 1.9 Mb in in a girl of 4.4 years with a distinctive phenotype consisting of early-onset of obesity associated with moderate ID, and hyperkinetic disorder. The deletion disrupted MYT1L and encompassed five other OMIM genes, ACP1, TMEM18, SNTG2, TPO, and PXDN); 24129437 - five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity; 21990140 - we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with phenotypic and genotypic data of three patients from the literature we defined the minimal region of overlap which contained one gene, i.e., MYT1L.
Severe early-onset obesity v2.22 MYT1L Ivone Leong Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, 616521; intellectual disability to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
Severe early-onset obesity v2.21 MKS1 Ivone Leong Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, 615990; Bardet-Biedl syndrome 13 to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
Severe early-onset obesity v2.20 MKKS Ivone Leong Phenotypes for gene: MKKS were changed from Obesity; Bardet-Biedl syndrome 6; Bardet-Biedl syndrome 6, 605231 to Obesity; Bardet-Biedl syndrome 6, OMIM:605231
Severe early-onset obesity v2.19 MC4R Ivone Leong Phenotypes for gene: MC4R were changed from Congenital Obesity; Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306; Obesity, autosomal dominant, 601665 to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
Lysosomal storage disorder v1.47 MFSD8 Sarah Leigh Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7 610951 to Ceroid lipofuscinosis, neuronal, 7 OMIM:610951; neuronal ceroid lipofuscinosis 7 MONDO:0012588
Severe early-onset obesity v2.18 LEPR Ivone Leong Phenotypes for gene: LEPR were changed from Obesity, morbid, due to leptin receptor deficiency, 614963; Congenital Obesity to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Severe early-onset obesity v2.17 LEPR Ivone Leong Added comment: Comment on publications: 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders;
26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents;
25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island;
24611737 - uncertain heterozygous variant reported;24319006 - two homozygous cases reported (Pakistan);
23275530 - multiple homozygous cases reported from different ethnicities
Severe early-onset obesity v2.17 LEPR Ivone Leong Publications for gene: LEPR were set to 27225180 - rat strains with premature stop codon or frame-shifted variants in LDLR lead to obesity and metabolic disorders; 26925581 - two female cases (Dutch) reported with biallelic variants in LEPR found to be heterozygous in parents; 25751111 - founder variant reported in subjects with severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism from Reunion Island; 24611737 - uncertain heterozygous variant reported; 24319006 - two homozygous cases reported (Pakistan); 23275530 - multiple homozygous cases reported from different ethnicities
Severe early-onset obesity v2.16 LEP Ivone Leong Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962; Congenital Obesity to Obesity, morbid, due to leptin deficiency, OMIM:614962
Severe early-onset obesity v2.15 GNAS Ivone Leong Phenotypes for gene: GNAS were changed from Congenital Obesity; Pseudohypoparathyroidism Ia, 103580; Pseudohypoparathyroidism Ib, 603233; Pseudohypoparathyroidism Ic, 612462 to Congenital Obesity; Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462
Severe early-onset obesity v2.14 CEP19 Ivone Leong Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, 615703 to Morbid obesity and spermatogenic failure, OMIM:615703
Severe early-onset obesity v2.13 BBS9 Ivone Leong Phenotypes for gene: BBS9 were changed from Obesity; Bardet-Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9 to Obesity; Bardet-Biedl syndrome 9, OMIM:615986
Severe early-onset obesity v2.12 BBS7 Ivone Leong Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, 615984; Bardet-Biedl syndrome 7 to Obesity; Bardet-Biedl syndrome 7, OMIM:615984
Severe early-onset obesity v2.11 BBS5 Ivone Leong Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5 to Obesity; Bardet-Biedl syndrome 5, OMIM:615983
Severe early-onset obesity v2.10 BBS4 Ivone Leong Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, 615982; Bardet-Biedl syndrome 4 to Obesity; Bardet-Biedl syndrome 4, OMIM:615982
Severe early-onset obesity v2.9 BBS2 Ivone Leong Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2, 615981 to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
Severe early-onset obesity v2.8 BBS12 Ivone Leong Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12; Bardet-Biedl syndrome 12, 615989 to obesity; Bardet-Biedl syndrome 12, OMIM:615989
Severe early-onset obesity v2.7 BBS10 Ivone Leong Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 10, 615987 to obesity; Bardet-Biedl syndrome 10, OMIM:615987
Severe early-onset obesity v2.6 BBS1 Ivone Leong Phenotypes for gene: BBS1 were changed from Obesity; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 1, 209900 to Obesity; Bardet-Biedl syndrome 1, OMIM:209900
Severe early-onset obesity v2.5 ARL6 Ivone Leong Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3 to Obesity; Bardet-Biedl syndrome 3, OMIM:600151
Lysosomal storage disorder v1.46 MCOLN1 Sarah Leigh Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV 252650 to Mucolipidosis IV OMIM:252650; mucolipidosis type IV MONDO:0009653
Hypertrophic cardiomyopathy - teen and adult v2.18 FHOD3 Ivone Leong Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Lysosomal storage disorder v1.45 MANBA Sarah Leigh Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 to Mannosidosis, beta OMIM:248510; beta-mannosidosis MONDO:0009562
Hypertrophic cardiomyopathy - teen and adult v2.17 FHOD3 Ivone Leong Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804
Lysosomal storage disorder v1.44 MAN2B1 Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II OMIM:248500; alpha-mannosidosis MONDO:0009561
Lysosomal storage disorder v1.43 LIPA Sarah Leigh Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease 278000; Wolman disease 278000 to Cholesteryl ester storage disease OMIM:278000; Wolman disease OMIM:278000; lysosomal acid lipase deficiency MONDO:0010204
Lysosomal storage disorder v1.42 LAMP2 Sarah Leigh Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease OMIM:300257; Danon disease MONDO:0010281
Lysosomal storage disorder v1.41 IDUA Sarah Leigh Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 to Mucopolysaccharidosis Ih OMIM:607014; Hurler syndrome MONDO:0011758; Mucopolysaccharidosis Is OMIM:607016; Scheie syndrome MONDO:0011760; Mucopolysaccharidosis Ih/s OMIM:607015; Hurler-Scheie syndromeMONDO:0011759
Lysosomal storage disorder v1.40 IDS Sarah Leigh Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II OMIM:309900; mucopolysaccharidosis type 2 MONDO:0010674
Lysosomal storage disorder v1.39 HYAL1 Sarah Leigh Phenotypes for gene: HYAL1 were changed from ?Mucopolysaccharidosis type IX 601492 to ?Mucopolysaccharidosis type IX OMIM:601492; mucopolysaccharidosis type 9 MONDO:0011093
Lysosomal storage disorder v1.38 HGSNAT Sarah Leigh Added comment: Comment on phenotypes: Biallelic variants are also associated with Retinitis pigmentosa 73 OMIM:616544
Lysosomal storage disorder v1.38 HGSNAT Sarah Leigh Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 to Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930; Sanfilippo syndrome type C MONDO:0009657
Lysosomal storage disorder v1.37 HEXB Sarah Leigh Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms 268800 to Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800; Sandhoff disease MONDO:0010006
Lysosomal storage disorder v1.36 HEXA Sarah Leigh Phenotypes for gene: HEXA were changed from Tay-Sachs disease 272800; GM2-gangliosidosis, several forms 272800 to Tay-Sachs disease OMIM:272800; GM2-gangliosidosis, several forms OMIM:272800; Tay-Sachs disease MONDO:0010100
Lysosomal storage disorder v1.35 GUSB Sarah Leigh Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII OMIM:253220; mucopolysaccharidosis type 7 MONDO:0009662
Lysosomal storage disorder v1.34 GNPTG Sarah Leigh Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma 252605 to Mucolipidosis III gamma OMIM:252605; mucolipidosis type III gamma MONDO:0009652
Lysosomal storage disorder v1.33 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type III MONDO:0018931
Lysosomal storage disorder v1.32 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650; Mucolipidosis III alpha/beta OMIM:252600; mucolipidosis type IIIMONDO:0018931
Lysosomal storage disorder v1.31 GNPTAB Sarah Leigh Phenotypes for gene: GNPTAB were changed from Mucolipidosis II alpha/beta 252500 to Mucolipidosis II alpha/beta OMIM:252500; mucolipidosis type II MONDO:0009650
Lysosomal storage disorder v1.30 GNE Sarah Leigh Phenotypes for gene: GNE were changed from Sialuria 269921 (AD); Nonaka myopathy 605820 to Sialuria OMIM:269921; sialuria MONDO:0010028; Nonaka myopathy OMIM:605820; GNE myopathy MONDO:0011603
Lysosomal storage disorder v1.29 GM2A Sarah Leigh Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant 272750 to GM2-gangliosidosis, AB variant OMIM:272750; Tay-Sachs disease AB variant MONDO:0010099
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Deleted their comment
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Added comment: Comment on phenotypes: Mucopolysaccharidosis type IVB (Morquio) OMIM:253010;mucopolysaccharidosis type 4B MONDO:0009660;GM1-gangliosidosis, type III OMIM:230650;GM1 gangliosidosis type 3 MONDO:0009262;GM1-gangliosidosis, type I OMIM:230500;GM1 gangliosidosis type 1 MONDO:0009260;GM1-gangliosidosis, type II OMIM:230600;GM1 gangliosidosis type 2 MONDO:0009261
Lysosomal storage disorder v1.28 GLB1 Sarah Leigh Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600 to Mucopolysaccharidosis type IVB (Morquio) OMIM:253010; mucopolysaccharidosis type 4B MONDO:0009660; GM1-gangliosidosis, type III OMIM:230650; GM1 gangliosidosis type 3 MONDO:0009262; GM1-gangliosidosis, type I OMIM:230500; GM1 gangliosidosis type 1 MONDO:0009260; GM1-gangliosidosis, type II OMIM:230600; GM1 gangliosidosis type 2 MONDO:0009261
Severe early-onset obesity v2.4 ALMS1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Truncal obesity (onset in childhood);Alstrom syndrome associated with obesity;Alstrom syndrome, 203800
Severe early-onset obesity v2.4 ALMS1 Ivone Leong Phenotypes for gene: ALMS1 were changed from Truncal obesity (onset in childhood); Alstrom syndrome associated with obesity; Alstrom syndrome, 203800 to Alstrom syndrome, OMIM:203800
Lysosomal storage disorder v1.27 GLA Sarah Leigh Phenotypes for gene: GLA were changed from Fabry disease 301500 to Fabry disease OMIM:301500; Fabry disease MONDO:0010526
Lysosomal storage disorder v1.26 GBA Sarah Leigh Phenotypes for gene: GBA were changed from Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900 to Gaucher disease, type I OMIM:230800; Gaucher disease type I MONDO:0009265; Gaucher disease, type III OMIM:231000; Gaucher disease type III MONDO:0009267; Gaucher disease, type IIIC OMIM:231005; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268; Gaucher disease, perinatal lethal OMIM:608013; Gaucher disease perinatal lethal MONDO:0011945; Gaucher disease, type II OMIM:230900; Gaucher disease type II MONDO:0009266
Monogenic diabetes v2.41 ZMPSTE24 Ivone Leong Phenotypes for gene: ZMPSTE24 were changed from Mandibuloacral dysplasia with type B lipodystrophy, 608612 to Mandibuloacral dysplasia with type B lipodystrophy, OMIM:608612
Monogenic diabetes v2.40 ZFP57 Ivone Leong Phenotypes for gene: ZFP57 were changed from Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes to transient neonatal diabetes mellitus (disease), MONDO:0020525; Diabetes mellitus, transient neonatal, 1, OMIM:601410
Monogenic diabetes v2.39 ZBTB20 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Primrose syndrome, 259050;Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications)
Monogenic diabetes v2.39 ZBTB20 Ivone Leong Phenotypes for gene: ZBTB20 were changed from Primrose syndrome, 259050; Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) to diabetes mellitus (disease), MONDO:0005015
Monogenic diabetes v2.38 WFS1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
diabetes insipidus or optic atrophy;Wolfram-like syndrome, autosomal dominant, 614296;Deafness, autosomal dominant 6/14/38, 600965;{Diabetes mellitus, noninsulin-dependent,association with};Deafness,autosomal dominant 6/14/38, 600965;Wolfram syndrome, 222300;{Diabetes mellitus, noninsulin-dependent, association with}, 125853;?Cataract 41,116400
Monogenic diabetes v2.38 WFS1 Ivone Leong Phenotypes for gene: WFS1 were changed from diabetes insipidus or optic atrophy; Wolfram-like syndrome, autosomal dominant, 614296; Deafness, autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400 to Wolfram-like syndrome, autosomal dominant, OMIM:614296; Wolfram syndrome 1, OMIM:222300; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853
Monogenic diabetes v2.37 TRMT10A Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies;young onset diabetes, short stature and microcephaly with intellectual disability;Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability;Microcephaly, short stature, and impaired glucose metabolism 1, 616033
Monogenic diabetes v2.37 TRMT10A Ivone Leong Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033
Monogenic diabetes v2.36 SLC29A3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome;H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes);Histiocytosis-lymphadenopathy plus syndrome,602782
Monogenic diabetes v2.36 SLC29A3 Ivone Leong Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome; H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes); Histiocytosis-lymphadenopathy plus syndrome,602782 to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Monogenic diabetes v2.35 RFX6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;Mitchell-Riley syndrome, 615710;recessive syndromic diabetes and autosomal dominant MODY
Monogenic diabetes v2.35 RFX6 Ivone Leong Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY to Mitchell-Riley syndrome, OMIM:615710
Monogenic diabetes v2.34 PPP1R15B Ivone Leong Phenotypes for gene: PPP1R15B were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817
Monogenic diabetes v2.33 PPARG Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Lipodystrophy, familial partial, type 3, 604367;FPLD3;{Diabetes, type 2}, 125853;[Obesity, resistance to];Obesity, severe, 601665;Lipodystrophy, familial partial, type 3;Insulin resistance, severe, digenic;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Insulin resistance, severe, digenic 604367;Insulin resistance, severe, digenic, 604367;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3;Lipodystrophy, familial partial, type 3 604367;Carotid intimal medial thickness 1, 609338
Monogenic diabetes v2.33 PPARG Ivone Leong Phenotypes for gene: PPARG were changed from Lipodystrophy, familial partial, type 3, 604367; FPLD3; {Diabetes, type 2}, 125853; [Obesity, resistance to]; Obesity, severe, 601665; Lipodystrophy, familial partial, type 3; Insulin resistance, severe, digenic; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic 604367; Insulin resistance, severe, digenic, 604367; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Lipodystrophy, familial partial, type 3 604367; Carotid intimal medial thickness 1, 609338 to Lipodystrophy, familial partial, type 3, OMIM:604367; Insulin resistance, severe, digenic, OMIM:604367; Obesity, severe, OMIM:601665; {Diabetes, type 2}, OMIM:125853
Monogenic diabetes v2.32 PLIN1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes;Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.32 PLIN1 Ivone Leong Phenotypes for gene: PLIN1 were changed from partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes; Lipodystrophy, familial partial, type 4, 613877; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 4, OMIM:613877
Monogenic diabetes v2.31 PIK3R1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndrome
Monogenic diabetes v2.31 PIK3R1 Ivone Leong Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880
Lysosomal storage disorder v1.25 GALNS Sarah Leigh Phenotypes for gene: GALNS were changed from Mucopolysaccharidosis IVA 253000 to Mucopolysaccharidosis IVA OMIM:253000; mucopolysaccharidosis type 4A MONDO:0009659
Lysosomal storage disorder v1.24 GALC Sarah Leigh Phenotypes for gene: GALC were changed from Krabbe disease 245200 to Krabbe disease OMIM:245200; Krabbe disease MONDO:0009499
Monogenic diabetes v2.30 PDX1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Pancreatic agenesis 1;MODY4;Maturity-Onset Diabetes Of The Young;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4;Permanent neonatal diabetes;Maturity-onset diabetes of the young (MODY);MODY type IV;Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392
Monogenic diabetes v2.30 PDX1 Ivone Leong Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1; MODY4; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; Permanent neonatal diabetes; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392 to Pancreatic agenesis 1, OMIM:260370; MODY, type IV, OMIM:606392
Lysosomal storage disorder v1.23 GAA Sarah Leigh Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II OMIM:232300; glycogen storage disease II MONDO:0009290
Monogenic diabetes v2.29 PCBD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Monogenic diabetes v2.29 PCBD1 Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070
Monogenic diabetes v2.28 PCBD1 Ivone Leong Phenotypes for gene: PCBD1 were changed from Hyperphenylalaninemia, BH4-deficient, D, 264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) to Hyperphenylalaninemia, BH4-deficient, D, OMIM:264070; Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty)
Lysosomal storage disorder v1.22 FUCA1 Sarah Leigh Phenotypes for gene: FUCA1 were changed from Fucosidosis 230000 to Fucosidosis OMIM:230000; fucosidosis MONDO:0009254
Monogenic diabetes v2.27 PAX6 Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia
Monogenic diabetes v2.27 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from diabetes mellitus (disease), MONDO:0005015 to diabetes mellitus (disease), MONDO:0005015
Monogenic diabetes v2.26 PAX6 Ivone Leong Added comment: Comment on phenotypes: Also associated with aniridia
Monogenic diabetes v2.26 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from Aniridia 106210; diabetes to diabetes mellitus (disease), MONDO:0005015
Lysosomal storage disorder v1.21 DNAJC5 Sarah Leigh Phenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 to Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350; neuronal ceroid lipofuscinosis 4B MONDO:0008083
Monogenic diabetes v2.25 NEUROD1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Maturity-onset diabetes of the young 6, 606394;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6;{Diabetes mellitus, noninsulin-dependent}, 125853;Maturity-Onset Diabetes Of The Young;MODY6;Permanent neonatal diabetes and cerebellar agenesis;Maturity Onset Diabetes of the Young
Monogenic diabetes v2.25 NEUROD1 Ivone Leong Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young 6, OMIM:606394; {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853
Lysosomal storage disorder v1.20 CTSK Sarah Leigh Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800; pycnodysostosis MONDO:0009940
Lysosomal storage disorder v1.19 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 OMIM:610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
Lysosomal storage disorder v1.18 CTSD Sarah Leigh Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127
Lysosomal storage disorder v1.17 CTSA Sarah Leigh Phenotypes for gene: CTSA were changed from Galactosialidosis 256540 to Galactosialidosis OMIM:256540; galactosialidosis MONDO:0009737
Lysosomal storage disorder v1.16 CTNS Sarah Leigh Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750 to Cystinosis, atypical nephropathic OMIM:219800; Cystinosis, nephropathic OMIM:219800; Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900; Cystinosis, ocular nonnephropathic OMIM:219750; nephropathic cystinosis MONDO:0100151; juvenile nephropathic cystinosis MONDO:0009066; ocular cystinosis MONDO:0009064
Monogenic diabetes v2.24 MT-TL1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
MIDD;DIABETES AND DEAFNESS, MATERNALLY INHERITED;Diabetes-Deafness Syndrome, Maternally Transmitted;MELAS syndrome;Maternally inherited diabetes
Monogenic diabetes v2.24 MT-TL1 Ivone Leong Phenotypes for gene: MT-TL1 were changed from MIDD; DIABETES AND DEAFNESS, MATERNALLY INHERITED; Diabetes-Deafness Syndrome, Maternally Transmitted; MELAS syndrome; Maternally inherited diabetes to maternally-inherited diabetes and deafness, MONDO:0010785
Monogenic diabetes v2.23 LMNA Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
FPLD2;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2;Lipodystrophy, familial partial, 2, 151660;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.23 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from FPLD2; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Lipodystrophy, familial partial, 2, 151660; Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules; Severe insulin resistance, partial lipodystrophy and diabetes to Lipodystrophy, familial partial, type 2, OMIM:151660; Severe insulin resistance, partial lipodystrophy and diabetes
Monogenic diabetes v2.22 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820; Maturity-onset diabetes of the young, type 13, OMIM:616329
Monogenic diabetes v2.21 KCNJ11 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Transient Neonatal diabetes mellitus (Dominant);Transient Neonatal Diabetes, Dominant;Diabetes mellitus, transient neonatal, 3, 610582;Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive);Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582;Diabetes, permanent neonatal, 606176;Diabetes mellitus, permanent neonatal, with neurologic features, 606176;Maturity Onset Diabetes of the Young;{Diabetes mellitus, type 2, susceptibility to}, 125853;Hyperinsulinemic hypoglycemia, familial, 2, 601820;Transient Neonatal, 3;Maturity Onset Diabetes of the Young (Dominant);Diabetes Mellitus, Permanent Neonatal;Diabetes mellitus, trans;Diabetes Mellitus, Transient Neonatal, 3
Monogenic diabetes v2.21 KCNJ11 Ivone Leong Phenotypes for gene: KCNJ11 were changed from Transient Neonatal diabetes mellitus (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Diabetes, permanent neonatal, 606176; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Maturity Onset Diabetes of the Young; {Diabetes mellitus, type 2, susceptibility to}, 125853; Hyperinsulinemic hypoglycemia, familial, 2, 601820; Transient Neonatal, 3; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Diabetes mellitus, trans; Diabetes Mellitus, Transient Neonatal, 3 to Diabetes mellitus, transient neonatal, 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820
Monogenic diabetes v2.20 INSR Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Leprechaunism, 246200;Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549;Rabson-Mendenhall syndrome, 262190;Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans;OMIM 610549;Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities;Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans;Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities;Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, 609968;DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Monogenic diabetes v2.20 INSR Ivone Leong Phenotypes for gene: INSR were changed from Leprechaunism, 246200; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Rabson-Mendenhall syndrome, 262190; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; OMIM 610549; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS to Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549; Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Leprechaunism, OMIM:246200; Rabson-Mendenhall syndrome, OMIM:262190
Intestinal failure v1.5 FLNA Miranda Durkie gene: FLNA was added
gene: FLNA was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to PMID: 23037936; PMID: 23873601; PMID: 33464596
Phenotypes for gene: FLNA were set to Congenital short bowel
Penetrance for gene: FLNA were set to unknown
Review for gene: FLNA was set to GREEN
Added comment: Congenital short bowel not included in other panels - overlap with intestinal failure presentation
PMID: 23037936 - affected males in 2 families
PMID: 33464596 - 1 affected male
Sources: Literature
Lysosomal storage disorder v1.15 ARSG Sarah Leigh edited their review of gene: ARSG: Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional and animal models.; Changed rating: GREEN
Intestinal failure v1.5 CLMP Miranda Durkie gene: CLMP was added
gene: CLMP was added to Intestinal failure. Sources: Literature
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLMP were set to PMID: 27352967; PMID: 22155368; PMID: 33384711; PMID: 31061750
Phenotypes for gene: CLMP were set to Congenital short bowel
Penetrance for gene: CLMP were set to unknown
Review for gene: CLMP was set to GREEN
Added comment: Genes for CSB not available on any other GMS panel/overlap with intestinal failure presentation
PMID: 33384711 - 2 brothers with compound het LOF variants
PMID: 31061750 - 1 proband with homozygous LOF CLMP variants
PMID: 27720179 1 proband with compound het LOF variants
PMID: 27352967: 3 patients from 2 families
PMID: 22155368 - initial paper
Sources: Literature
Lysosomal storage disorder v1.15 ARSG Sarah Leigh Tag Q2_21_rating tag was added to gene: ARSG.
Lysosomal storage disorder v1.15 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381; 33300174
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Classified gene: ARSG as Amber List (moderate evidence)
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Lysosomal storage disorder v1.14 ARSG Sarah Leigh Gene: arsg has been classified as Amber List (Moderate Evidence).
Lysosomal storage disorder v1.13 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023; 29300381
Lysosomal storage disorder v1.12 ARSG Sarah Leigh Phenotypes for gene: ARSG were changed from Usher syndrome, type IV 618144 to Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141
Monogenic diabetes v2.19 INS Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
MODY10;Maturity-onset diabetes of the young, type 10, 613370;Transient Neonatal Diabetes, Dominant/Recessive;Diabetes mellitus, permanent neonatal, 606176;Diabetes mellitus, insulin-dependent, 2, 125852;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10;Maturity Onset Diabetes of the Young;Permanent Neonatal diabetes mellitus;Hyperproinsulinemia, familial, with or without diabetes;Maturity Onset Diabetes of the Young (Dominant);Diabetes mellitus, type 1, 125852
Monogenic diabetes v2.19 INS Ivone Leong Phenotypes for gene: INS were changed from MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852 to Maturity-onset diabetes of the young, type 10, OMIM:613370; Diabetes mellitus, permanent neonatal 4, OMIM:618858; Diabetes mellitus, insulin-dependent, 2, OMIM:125852; Hyperproinsulinemia, OMIM:616214
Monogenic diabetes v2.18 HNF4A Ivone Leong Phenotypes for gene: HNF4A were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1; MODY1, 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 to {Diabetes mellitus, noninsulin-dependent}, OMIM:125853; MODY, type I , OMIM:125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026