Autoinflammatory disorders
Gene: CARD14EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 11 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Psoriasis 2, OMIM:602723
- Pityriasis rubra pilaris, OMIM:173200
- OMIM
- 607211
- Clinvar variants
- Variants in CARD14
- Penetrance
- None
- Publications
- Panels with this gene
-
- Epidermolysis bullosa and congenital skin fragility
- Ichthyosis and erythrokeratoderma
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mosaic skin disorders - deep sequencing
- Peeling skin syndrome
- Pityriasis rubra pilaris
- Palmoplantar keratoderma and erythrokeratodermas
- Generalised pustular psoriasis
- Autoinflammatory disorders
- Rare genetic inflammatory skin disorders
History Filter Activity
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to CARD14.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: CARD14 was added gene: CARD14 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CARD14 were set to 29980436; 22521418; 22703878; 29704870; 23648549; 23067081; 29689250; 23711932; 30248356 Phenotypes for gene: CARD14 were set to Psoriasis 2, OMIM:602723; Pityriasis rubra pilaris, OMIM:173200