Palmoplantar Keratoderma and Erythrokeratoderma
Gene: GJA1

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 20 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25398053;
- 3x probands with Erythrokeratodermia variabilis et progressiva 3
> missense variants, 2 confirmed de novo

PMID: 25168385;
- 2x probands with Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS)
- 1x familial + 1x de novo
> identical missense in both cases

PMID: 30811667 ;
- 1x proband with honeycomb palmoplantar keratoderma and the associ-ation of skin and bone lesions
> missense variant
Created: 12 Aug 2020, 3:28 a.m. | Last Modified: 12 Aug 2020, 3:28 a.m.

Panel Version: 0.8

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

Phenotypes
Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100); Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)

Publications

Created: 12 Aug 2020, 3:28 a.m.
Last Modified: 12 Aug 2020, 3:28 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

Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100)
Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)

OMIM

121014

Clinvar variants

Variants in GJA1

Penetrance

None

Publications

Panels with this gene