1. Genes and Genomic Entities
  2. NFKB1

NFKB1

nuclear factor kappa B subunit 1
OMIM: 164011, Gene2Phenotype

5 panels

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

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

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 1.142

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


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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


Version 3.11
Latest signed off version: v3.10 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Immunodeficiency, common variable, 12, 616576
  • Recurrent sinopulmonary infections
Green NFKB1 in Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 12, 616576