Genomics England
GMS Panels
Panels
Genes and Entities

C5

complement C5
OMIM: 120900
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C5 deficiency, 609536, Complement component 5 deficiency, Susceptibility to invasive bacterial infection, especially meningococcal, Disseminated neisserial infections, Complement Deficiencies