Genomics England
GMS Panels
Panels
Genes and Entities

CD40

CD40 molecule
OMIM: 109535
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency with hyper-IgM, type 3, HIGM3, CD40 deficiency, CSR defects and Hyper IgM (HIGM) syndromes, Hyper-IgM syndrome due to CD40 deficiency, non-X-linked hyper IgM syndrome, Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections, Immunodeficiencies affecting cellular and humoral immunity