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  3. GJB2
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Deafness_Isolated

Gene: GJB2

Green List (high evidence)
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: Imported from Deafness_IsolatedAndComplex panel version 0.313

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
Phenotypes
  • Keratitis-ichthyosis-deafness syndrome, MIM#148210
  • Deafness, autosomal dominant 3A, MIM#601544
  • Bart-Pumphrey syndrome, MIM#149200
  • Vohwinkel syndrome, MIM# 124500
  • Deafness, autosomal recessive 1A, MIM#220290
  • Keratoderma, palmoplantar, with deafness, MIM#148350
  • Hystrix-like ichthyosis with deafness, MIM#602540
OMIM
121011
Clinvar variants
Variants in GJB2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb2 has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: GJB2 was changed from to Other

21 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GJB2 was added gene: GJB2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJB2 were set to 9529365; 14985372; 11354642; 19941053 Phenotypes for gene: GJB2 were set to Keratitis-ichthyosis-deafness syndrome, MIM#148210; Deafness, autosomal dominant 3A, MIM#601544; Bart-Pumphrey syndrome, MIM#149200; Vohwinkel syndrome, MIM# 124500; Deafness, autosomal recessive 1A, MIM#220290; Keratoderma, palmoplantar, with deafness, MIM#148350; Hystrix-like ichthyosis with deafness, MIM#602540