Genomics England
GMS Panels
Panels
Genes and Entities

NFKB1

nuclear factor kappa B subunit 1
OMIM: 164011
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Immunodeficiency, common variable, 12 616576, Common variable immunodeficiency disorders (CVID), Unclassified antibody deficiency, Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis, Predominantly Antibody Deficiencies
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency, common variable, 12, 616576, Recurrent sinopulmonary infections