Epidermolysis bullosa and congenital skin fragility
Gene: CARD14

CARD14 (caspase recruitment domain family member 14)
EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 11 panels

1 review

David Kelsell (Queen Mary University of London)

Red List (low evidence)

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

Phenotypes
Pityriasis rubra pilaris; 173200, PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

Created: 12 Dec 2016, 11:51 a.m.

Panel version: Imported from Peeling skin syndrome panel version 0.32

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Pityriasis rubra pilaris, OMIM:173200
Thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

OMIM

607211

Clinvar variants

Variants in CARD14

Penetrance

None

Panels with this gene

History Filter Activity

11 Jan 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris, 173200; PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region to Pityriasis rubra pilaris, OMIM:173200; Thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CARD14 was added gene: CARD14 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CARD14 were set to Pityriasis rubra pilaris, 173200; PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

Epidermolysis bullosa and congenital skin fragility Gene: CARD14