Genomics England
GMS Panels
Panels
Genes and Entities

C8B

complement C8 beta chain
OMIM: 120960
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
C8 deficiency, type II, 613789, Complement component 8 deficiency, Susceptibility to invasive bacterial infection, especially meningococcal, Disseminated neisserial infections, Complement Deficiencies