CARD11

caspase recruitment domain family member 11
OMIM: 607210, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CARD11 in Severe multi-system atopic disease with high IgE Level 3: Atopy Level 2: Dermatological disorders Version 1.8	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes multisystem atopic disease, eczema, raised IgE, low IgM, eosinophilia B-cell expansion with NFKB and T-cell anergy, OMIM:616452
Green CARD11 in COVID-19 research Level 2: Viral research Version 1.141	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green Victorian Clinical Genetics Services GRID V2.0 ESID Registry 20171117 IUIS Classification February 2018 Phenotypes immunodeficiency 11B with atopic dermatitis (AD), 617638 CARD11 deficiency Combined immunodeficiency Autoimmune lymphoproliferative syndrome (ALPS) Pneumocystis jirovecii pneumonia, bacterial and viral infections Severe atopy, recurrent infections B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452 Atypical Severe Combined Immunodeficiency (Atypical SCID) Splenomegaly, lymphadenopathy, poor vaccine response Immunodeficiencies affecting cellular and humoral immunity Predominantly Antibody Deficiencies Predominantly antibody deficiencies Combined immunodeficiencies with associated or syndromic features Immunodeficiency 11A, 615206 (AR)
Green CARD11 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency 11B with atopic dermatitis, OMIM:617638
Green CARD11 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH Victorian Clinical Genetics Services GRID V2.0 ESID Registry 20171117 IUIS Classification February 2018 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
Red CARD11 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green CARD11 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes B-cell expansion with NFKB and T-cell anergy, 616452 Immunodeficiency 11A, 615206 Immunodeficiency 11B with atopic dermatitis, 617638