Hereditary ataxia
Gene: NFASC
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants have been reported in three cases of OMIM:618356, where early onset ataxia is part of the phenotype (PMID: 30850329, 31608123, 31501903).Created: 4 Apr 2023, 5 p.m. | Last Modified: 4 Apr 2023, 5 p.m.
Panel Version: 1.317
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 4 Apr 2023, 4:43 p.m. | Last Modified: 4 Apr 2023, 4:43 p.m.
Panel Version: 1.317
Sources: LiteratureCreated: 23 Mar 2023, 10:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia, Demyelinating neuropathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: nfasc has been classified as Green List (High Evidence).
Publications for gene: NFASC were set to PMID: 30850329, 31608123, 31501903
Phenotypes for gene: NFASC were changed from Cerebellar ataxia, Demyelinating neuropathy to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
gene: NFASC was added gene: NFASC was added to Hereditary ataxia. Sources: Literature Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFASC were set to PMID: 30850329, 31608123, 31501903 Phenotypes for gene: NFASC were set to Cerebellar ataxia, Demyelinating neuropathy Penetrance for gene: NFASC were set to Complete Review for gene: NFASC was set to GREEN gene: NFASC was marked as current diagnostic