Rare genetic inflammatory skin disorders
Gene: CARD14EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 11 panels
2 reviews
Rebecca Foulger (Genomics England curator)
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
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Pityriasis rubra pilaris, OMIM:173200
- Psoriasis 2, OMIM:602723
- OMIM
- 607211
- Clinvar variants
- Variants in CARD14
- Penetrance
- None
- Publications
- Panels with this gene
-
- Autoinflammatory disorders
- Epidermolysis bullosa and congenital skin fragility
- Ichthyosis and erythrokeratoderma
- COVID-19 research
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Peeling skin syndrome
- Pityriasis rubra pilaris
- Palmoplantar keratoderma and erythrokeratodermas
- Generalised pustular psoriasis
- Rare genetic inflammatory skin disorders
History Filter Activity
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
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
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to CARD14.
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