Palmoplantar keratoderma and erythrokeratodermas
Gene: CARD14
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.
Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris, 173200; familial pityriasis rubra pilaris; keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723; Keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CARD14 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CARD14 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other
CARD14 was created by rfoulger