Deafness_IsolatedAndComplex
Gene: WFS1
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
Gene: wfs1 has been classified as Green List (High Evidence).
Phenotypes for gene: WFS1 were changed from to Deafness, autosomal dominant 6/14/38, MIM# 600965; Wolfram syndrome 1 222300; Wolfram-like syndrome, autosomal dominant, MIM# 614296
Publications for gene: WFS1 were set to
Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: WFS1 was added gene: WFS1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: WFS1 was set to Unknown