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  2. Ichthyosis and erythrokeratoderma
  3. CARD14
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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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous 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
Created: 23 Mar 2021, 2:02 p.m. | Last Modified: 23 Mar 2021, 2:02 p.m.
Panel Version: 1.13
Created: 23 Mar 2021, 2:02 p.m.
Last Modified: 23 Mar 2021, 2:02 p.m.
Panel version: 1.13

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Created: 10 Apr 2017, 9:10 a.m.

Panel version: Imported from Palmoplantar keratoderma and erythrokeratodermas panel version 0.187

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.
Created: 23 Mar 2017, 10:43 a.m.

Panel version: Imported from Palmoplantar keratoderma and erythrokeratodermas panel version 0.168

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CARD14 were changed from 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 to Pityriasis rubra pilaris, OMIM:173200

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