Deafness_Isolated
Gene: WFS1

WFS1 (wolframin ER transmembrane glycoprotein)
EnsemblGeneIds (GRCh38): ENSG00000109501
EnsemblGeneIds (GRCh37): ENSG00000109501
OMIM: 606201, Gene2Phenotype
WFS1 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants are associated with low-frequency hearing loss and Wolfram-like syndrome. Multiple families reported, DEFINITIVE by ClinGen.

Bi-allelic variants are associated with Wolfram syndrome, deafness is part of the phenotype, which also classically includes diabetes mellitus, optic atrophy, and diabetes insipidus. Well established gene-disease association, DEFINITIVE by ClinGen.
Created: 1 Oct 2020, 6:10 a.m. | Last Modified: 1 Oct 2020, 6:10 a.m.

Panel Version: 0.536

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 6/14/38, MIM# 600965; Wolfram syndrome 1 222300; Wolfram-like syndrome, autosomal dominant, MIM# 614296

Publications

Created: 1 Oct 2020, 6:10 a.m.
Last Modified: 1 Oct 2020, 6:10 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.536

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal dominant 6/14/38, MIM# 600965
Wolfram syndrome 1 222300
Wolfram-like syndrome, autosomal dominant, MIM# 614296

OMIM

606201

Clinvar variants

Variants in WFS1

Penetrance

None

Publications

Panels with this gene