Deafness_IsolatedAndComplex
Gene: GJB2

GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 10 panels

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 25 Feb 2020, 6:11 a.m.
Last Modified: 25 Feb 2020, 6:11 a.m.
Panel version: 0.313

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

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

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

OMIM

121011

Clinvar variants

Variants in GJB2

Penetrance

None

Publications

Panels with this gene