Rare genetic inflammatory skin disorders

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

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
susceptibility to psoriasis; Pityriasis rubra pilaris

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CARD14; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:02 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris; susceptibility to psoriasis to Pityriasis rubra pilaris, OMIM:173200; Psoriasis 2, OMIM:602723

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes Pityriasis rubra pilaris; susceptibility to psoriasis for gene: CARD14 Publications for gene CARD14 were changed from to 22703878; 22521418

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CARD14.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CARD14 was added gene: CARD14 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CARD14 were set to susceptibility to psoriasis; Pityriasis rubra pilaris