Palmoplantar keratoderma and erythrokeratodermas

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 12 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
  • Other
Phenotypes
  • 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
OMIM
607211
Clinvar variants
Variants in CARD14
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

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.

10 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for CARD14 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CARD14 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other

5 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CARD14 was created by rfoulger