Genomics England
GMS Panels
Panels
Genes and Entities

CFD

complement factor D
OMIM: 134350
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
Complement factor D deficiency, 613912, Complement factor D deficiency, Factor D deficiency, Recurrent Neisseria infections due to factor D deficiency, Neisserial infections, Complement Deficiencies