CYBB

cytochrome b-245 beta chain
OMIM: 300481
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Immunodeficiency 34, mycobacteriosis, X-linked, 300645, Chronic granulomatous disease, X-linked, 306400, Chronic granulomatous disease (CGD), Defects with susceptibility to mycobacterial infection (MSMD), Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus, Congenital defects of phagocyte number or function, Isolated susceptibility to mycobacteria, Defects in Intrinsic and Innate Immunity