Palmoplantar Keratoderma and Erythrokeratoderma
Gene: CARD14

CARD14 (caspase recruitment domain family member 14)
EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Palmoplantar keratoderma and erythrokeratoderma is a feature of Pityriasis rubra pilaris.
GoF mutations result in over activation of nuclear factor NF-kB

PMID: 22703878;PMID: 27760266
- total of 7 families
Created: 12 Aug 2020, 1:22 a.m. | Last Modified: 12 Aug 2020, 1:22 a.m.

Panel Version: 0.8

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

Phenotypes
Pityriasis rubra pilaris (MIM#173200)

Publications

Created: 12 Aug 2020, 1:22 a.m.
Last Modified: 12 Aug 2020, 1:22 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

Pityriasis rubra pilaris (MIM#173200)

OMIM

607211

Clinvar variants

Variants in CARD14

Penetrance

None

Publications

Panels with this gene