Genomics England
GMS Panels
Panels
Genes and Entities

CYBB

cytochrome b-245 beta chain
OMIM: 300481
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Chronic granulomatous disease, X-linked, OMIM:306400
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
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