Palmoplantar Keratoderma and Erythrokeratoderma
Gene: GJB6

GJB6 (gap junction protein beta 6)
EnsemblGeneIds (GRCh38): ENSG00000121742
EnsemblGeneIds (GRCh37): ENSG00000121742
OMIM: 604418, Gene2Phenotype
GJB6 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Clouston syndrome can present with palmoplantar keratodema.

PMID: 23219093;
- het missense p.(Gly11Arg) in a Clouston syndrome family with 3 affecteds

PMID: 1941625;
- 1x proband with mild palmoplantar keratoderma, severe sensorineural hearing loss, knuckle pads and pseudoainhum of her toes
> het for p.(Gly59Arg)

PMID: 27137747;
- 1x large Chinese family (25 affecteds) with Clouston syndrome
- authors noted the hyperkeratosis of the palms and soles is more sever in elderly patients than in younger ones
> het missense p.(Ala88Val)
Created: 12 Aug 2020, 4:48 a.m. | Last Modified: 12 Aug 2020, 4:48 a.m.

Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ectodermal dysplasia 2, Clouston type (MIM# 129500)

Publications

Created: 12 Aug 2020, 4:48 a.m.
Last Modified: 12 Aug 2020, 4:48 a.m.
Panel version: 0.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ectodermal dysplasia 2, Clouston type (MIM# 129500)

OMIM

604418

Clinvar variants

Variants in GJB6

Penetrance

None

Publications

Panels with this gene