Genomics England
GMS Panels
Panels
Genes and Entities

IKBKB

inhibitor of nuclear factor kappa B kinase subunit beta
OMIM: 603258
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 15A, OMIM:618204 (AD), Immunodeficiency 15B, OMIM:615592 (AR), Combined immunodeficiency, Recurrent bacterial, viral, fungal infections, opportunistic infections, Immunodeficiencies affecting cellular and humoral immunity