| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary ataxia v1.317 | NFASC | Sarah Leigh edited their review of gene: NFASC: Added comment: 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).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.317 | NFASC | Sarah Leigh Classified gene: NFASC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.317 | NFASC | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.317 | NFASC | Sarah Leigh Gene: nfasc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.316 | NFASC | Sarah Leigh Publications for gene: NFASC were set to PMID: 30850329, 31608123, 31501903 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.315 | NFASC | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia v1.314 | NFASC |
Edoardo Monfrini 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 Added comment: Sources: Literature |
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