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Severe Paediatric Disorders v1.150 | NFASC | Sarah Leigh Phenotypes for gene: NFASC were changed from Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | NFASC | Louise Daugherty reviewed gene: NFASC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NFASC | Louise Daugherty Publications for gene NFASC were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | NFASC | Louise Daugherty Mode of inheritance for gene NFASC was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | NFASC | Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NFASC | Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | NFASC | Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | NFASC | Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | NFASC | Louise Daugherty Source Next Generation Children Project was added to NFASC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | NFASC |
Louise Daugherty Source Expert Review Green was added to NFASC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | NFASC |
Louise Daugherty gene: NFASC was added gene: NFASC was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NFASC was set to |