Genomics England
GMS Panels
Panels
Genes and Entities

C6

complement C6
OMIM: 217050
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C6 deficiency, 612446, Complement component 6 deficiency, Susceptibility to invasive bacterial infection, especially meningococcal, Disseminated neisserial infections, Complement Deficiencies