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Deafness_IsolatedAndComplex

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

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

History Filter Activity

27 Feb 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).

27 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJB2 were changed from to 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

27 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GJB2 were set to

27 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GJB2 was added gene: GJB2 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: GJB2 was set to Unknown