NFKB1

nuclear factor kappa B subunit 1
OMIM: 164011, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber NFKB1 in Ciliary Dyskinesia Level 2: Respiratory disorders Version 1.40	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency, common variable, 12 616576
Green NFKB1 in Mendeliome Version 1.2302	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia
Green NFKB1 in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 1.0 Component of the following Super Panels: Immunological disorders_SuperPanel	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia
Green NFKB1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia
Green NFKB1 in Common Variable Immunodeficiency Level 2: Immunological disorders Version 1.12 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia