1. Panels
  2. Hereditary ataxia
  3. NFASC

Hereditary ataxia

Gene: NFASC

Green List (high evidence)
NFASC (neurofascin)
EnsemblGeneIds (GRCh38): ENSG00000163531
EnsemblGeneIds (GRCh37): ENSG00000163531
OMIM: 609145, Gene2Phenotype
NFASC is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
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)

Green List (high evidence)

Sources: Literature
Created: 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

Created: 23 Mar 2023, 10:37 a.m.

Panel version: 1.314

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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

4 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nfasc has been classified as Green List (High Evidence).

4 Apr 2023, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NFASC were set to PMID: 30850329, 31608123, 31501903

4 Apr 2023, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

23 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Edoardo Monfrini (University of Milan)

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