Genomics England
GMS Panels
Panels
Genes and Entities

NCF1

neutrophil cytosolic factor 1
OMIM: 608512
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-1 233700, Chronic granulomatous disease (CGD), Infections, autoinflammatory phenotype, Congenital defects of phagocyte number or function