Genomics England
GMS Panels
Panels
Genes and Entities

CTLA4

cytotoxic T-lymphocyte associated protein 4
OMIM: 123890
PanelMode of inheritanceDetails
2 panels
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100, {Celiac disease, susceptibility to, 3}, OMIM:609755
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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