Genomics England
GMS Panels
Panels
Genes and Entities

NCF2

neutrophil cytosolic factor 2
OMIM: 608515
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
Chronic granulomatous disease due to deficiency of NCF-2 233710, Chronic granulomatous disease (CGD), Infections, autoinflammatory phenotype, Congenital defects of phagocyte number or function