Ichthyosis and erythrokeratoderma

Gene: CARD14

Green List (high evidence)

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

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green following discussion with Helen Brittain: the wider dermatological phenotype includes PPK or a more diffuse hyperkeratosis. Sufficient unrelated cases (>3) to support causation of Pityriasis rubra pilaris, which presents with PPK.
Created: 3 Apr 2017, 9:54 a.m.
>3 unrelated cases of CARD14 variants causing Pityriasis rubra pilaris (MIM:173200).
Created: 23 Mar 2017, 10:43 a.m.
Pityriasis rubra pilaris (OMIM:173200) is an uncommon skin disorder characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma (Source = OMIM).
Created: 10 Jan 2017, 4:23 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • familial pityriasis rubra pilaris
  • Pityriasis rubra pilaris, 173200
  • keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
OMIM
607211
Clinvar variants
Variants in CARD14
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CARD14 was added gene: CARD14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CARD14 were set to familial pityriasis rubra pilaris; Pityriasis rubra pilaris, 173200; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma