Genomics England
GMS Panels
Panels
Genes and Entities

CARD11

caspase recruitment domain family member 11
OMIM: 607210
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 11A, 615206 (AR), CARD11 deficiency, Predominantly antibody deficiencies, Atypical Severe Combined Immunodeficiency (Atypical SCID), Combined immunodeficiency, Autoimmune lymphoproliferative syndrome (ALPS), B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452, immunodeficiency 11B with atopic dermatitis (AD), 617638, Severe atopy, recurrent infections, Combined immunodeficiencies with associated or syndromic features, Splenomegaly, lymphadenopathy, poor vaccine response, Predominantly Antibody Deficiencies, Pneumocystis jirovecii pneumonia, bacterial and viral infections, Immunodeficiencies affecting cellular and humoral immunity
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 11B with atopic dermatitis, OMIM:617638