NFKB1

nuclear factor kappa B subunit 1
OMIM: 164011, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red NFKB1 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.4

review Not set
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bilateral Meniere disease
  • autoimmune Meniere disease
Green NFKB1 in COVID-19 research


Level 2: Viral research
Version 1.146

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Unclassified antibody deficiency
  • Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
  • Immunodeficiency, common variable, 12 616576
Green NFKB1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
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 NFKB1 in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Immunodeficiency, common variable, 12, 616576
  • Recurrent sinopulmonary infections