Palmoplantar keratoderma and erythrokeratodermas
Gene: CARD14EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 11 panels
2 reviews
Helen Brittain (Genomics England Curator)
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
- Other
- Phenotypes
-
- 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
- OMIM
- 607211
- Clinvar variants
- Variants in CARD14
- Penetrance
- Complete
- Panels with this gene
-
- Ichthyosis and erythrokeratoderma
- Rare genetic inflammatory skin disorders
- Epidermolysis bullosa and congenital skin fragility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mosaic skin disorders - deep sequencing
- Peeling skin syndrome
- Pityriasis rubra pilaris
- COVID-19 research
- Palmoplantar keratoderma and erythrokeratodermas
- Generalised pustular psoriasis
- Autoinflammatory disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for CARD14 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Rebecca Foulger (Genomics England curator)CARD14 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)CARD14 was created by rfoulger