Genomics England
GMS Panels
Panels
Genes and Entities

C4A

complement C4A (Rodgers blood group)
OMIM: 120810
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C4a deficiency, 614380, Complement component 4 deficiency, Immunodeficiency due to a classical component pathway complement deficiency, SLE predisposition, infections with encapsulated organisms, SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense, Complement Deficiencies