Genomics England
GMS Panels
Panels
Genes and Entities

NCF4

neutrophil cytosolic factor 4
OMIM: 601488
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
?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, Chronic granulomatous disease (CGD), Infections, autoinflammatory phenotype, Congenital defects of phagocyte number or function