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  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. GJB3
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: GJB3

Green List (high evidence)
GJB3 (gap junction protein beta 3)
EnsemblGeneIds (GRCh38): ENSG00000188910
EnsemblGeneIds (GRCh37): ENSG00000188910
OMIM: 603324, Gene2Phenotype
GJB3 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Erythrokeratodermia variabilis et progressiva (EKVP1) is a disorder of keratinization characterized by fixed erythrokeratotic plaques, associated with migratory erythematous lesions. Multiple families reported with heterozygous mutations with some functional evidence. One family with EKVP1 has been reported with a homozygous mutation in the GJB3 gene.
Created: 19 May 2022, 10:19 p.m. | Last Modified: 19 May 2022, 10:19 p.m.
Panel Version: 0.120

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Erythrokeratodermia variabilis et progressiva 1, OMIM #133200

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1, OMIM #133200
OMIM
603324
Clinvar variants
Variants in GJB3
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: gjb3 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: GJB3 were changed from to Erythrokeratodermia variabilis et progressiva 1, OMIM #133200

29 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GJB3 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: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GJB3 was added gene: GJB3 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GJB3 was set to Unknown