CTLA4

cytotoxic T-lymphocyte associated protein 4
OMIM: 123890, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CTLA4 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes CTLA4 deficiency
Red CTLA4 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	review	Not set	Sources Literature
Green CTLA4 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes CTLA4 deficiency
Green CTLA4 in COVID-19 research Level 2: Viral research Version 1.146	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources IUIS Classification February 2018 A- or hypo-gammaglobulinaemia v1.25 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 IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Autoimmune lymphoproliferative syndrome, type V interstitual lung disease autoimmunity lymphadenopathy T cell lymphopenia Combined immunodeficiency Immune dysregulation a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation Diseases of Immune Dysregulation Early-onset multi-organ autoimmune disease Autoimmune lymphoproliferative syndrome, type V 616100 hypogammaglobulinaemia enteropathy Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections CVID
Green CTLA4 in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100 {Celiac disease, susceptibility to, 3}, OMIM:609755
Green CTLA4 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes CVID hypogammaglobulinaemia lymphadenopathy T cell lymphopenia enteropathy interstitual lung disease autoimmunity Autoimmune lymphoproliferative syndrome, type V 616100 Autoimmune lymphoproliferative syndrome, type V Combined immunodeficiency Early-onset multi-organ autoimmune disease Immune dysregulation a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections Diseases of Immune Dysregulation