Rare genetic inflammatory skin disorders

Gene: CARD11

Green List (high evidence)

CARD11 (caspase recruitment domain family member 11)
EnsemblGeneIds (GRCh38): ENSG00000198286
EnsemblGeneIds (GRCh37): ENSG00000198286
OMIM: 607210, Gene2Phenotype
CARD11 is in 7 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 11B with atopic dermatitis

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that Green genes associated severe multi-system atopic disease with high Ig should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis
OMIM
607210
Clinvar variants
Variants in CARD11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes Immunodeficiency 11B with atopic dermatitis for gene: CARD11 Publications for gene CARD11 were changed from to 28628108

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to CARD11. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: CARD11 was added gene: CARD11 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted