1. Panels
  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. GJB2
STRs in panel
Prev Next
Regions in panel
Prev Next

Palmoplantar Keratoderma and Erythrokeratoderma

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Kelsell et al. (2001) provided a comprehensive review of connexin mutations in skin disease and hearing loss. They discuss the dominant connexin disorders of keratoderma and/or hearing loss and the autosomal recessive nonsyndromal hearing loss due to connexin mutations.
Created: 19 May 2022, 10:23 p.m. | Last Modified: 19 May 2022, 10:23 p.m.
Panel Version: 0.120

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

Created: 19 May 2022, 10:23 p.m.
Last Modified: 19 May 2022, 10:23 p.m.
Panel version: 0.120

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

29 May 2022, 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).

29 May 2022, 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

29 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GJB2 were set to

29 May 2022, 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 Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJB2 was set to Unknown