Genomics England
GMS Panels
Panels
Genes and Entities

C8A

complement C8 alpha chain
OMIM: 120950
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C8 deficiency, type I, 613790, Complement component 8 deficiency, Susceptibility to invasive bacterial infection, especially meningococcal, Disseminated neisserial infections, Complement Deficiencies