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| Hereditary Neuropathy v2.37 | NFASC | Sangavi Sivagnanasundram Classified gene: NFASC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.37 | NFASC | Sangavi Sivagnanasundram Gene: nfasc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v2.36 | NFASC |
Sangavi Sivagnanasundram gene: NFASC was added gene: NFASC was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFASC were set to 31501903 Phenotypes for gene: NFASC were set to neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698 Review for gene: NFASC was set to AMBER Added comment: 3 individuals from 2 families (one family is consanguineous) reported with neurodevelopmental disorder and peripheral neuropathy as a presenting feature. Sources: Literature |
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