Genomics England
GMS Panels
Panels
Genes and Entities

C9

complement C9
OMIM: 120940
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C9 deficiency, 613825, Complement component 9 deficiency, Susceptibility to invasive bacterial infection, especially meningococcal, Mild susceptibility to disseminated neisserial infections, Complement Deficiencies