Auditory Neuropathy
Gene: GJB2EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 10 panels
1 review
Chern Lim (Victorian Clinical Genetics Services)
Well-reported disease gene for hearing loss.
Loss of function reported for PTVs (OMIM).
Loss of function and dominant negative reported for missense variants (PMID:19384972).Created: 25 Feb 2020, 6:11 a.m. | Last Modified: 25 Feb 2020, 6:11 a.m.
Panel Version: 0.313
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Deafness, autosomal recessive 1A MIM#220290
- non-syndromic auditory neuropathy spectrum disorder
- OMIM
- 121011
- Clinvar variants
- Variants in GJB2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GJB2 was added gene: GJB2 was added to Auditory Neuropathy. Sources: Literature,Expert Review Green Mode of inheritance for gene: GJB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJB2 were set to 21176974 Phenotypes for gene: GJB2 were set to Deafness, autosomal recessive 1A MIM#220290; non-syndromic auditory neuropathy spectrum disorder