Ataxia and cerebellar anomalies - narrow panel
Gene: NFASCEnsemblGeneIds (GRCh38): ENSG00000163531
EnsemblGeneIds (GRCh37): ENSG00000163531
OMIM: 609145, Gene2Phenotype
NFASC is in 5 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 10:01 a.m. | Last Modified: 11 Oct 2023, 10:01 a.m.
Panel Version: 4.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
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
Edoardo Monfrini (University of Milan)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
- neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
- OMIM
- 609145
- Clinvar variants
- Variants in NFASC
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_23_promote_green was removed from gene: NFASC.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to NFASC. Source NHS GMS was added to NFASC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: nfasc has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_23_promote_green tag was added to gene: NFASC.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: nfasc has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sarah Leigh (Genomics England Curator)gene: NFASC was added gene: NFASC was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature,Expert Review Green Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFASC were set to 30850329; 31608123; 31501903 Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698 Penetrance for gene: NFASC were set to Complete