Genomics England
GMS Panels
Panels
Genes and Entities

C2

complement C2
OMIM: 613927
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complement Component C2 Deficiency, C2 deficiency, 217000, Immunodeficiency due to C1, C4, or C2 component complement deficiency, Lupus, SLE, infections with encapsulated organisms, atherosclerosis, Complement Deficiencies