NFKB2

nuclear factor kappa B subunit 2
OMIM: 164012, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NFKB2 in COVID-19 research


Level 2: Viral research
Version 1.79

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • A- or hypo-gammaglobulinaemia v1.25
  • 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
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Recurrent sinopulmonary infections, alopecia and endorinopathies
  • Immunodeficiency, common variable, 10 615577
  • Unclassified antibody deficiency
  • Hypogammaglobuliaemia
  • central adrenal insufficiency
  • immune dysregulation
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies

Green NFKB2 in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 10 615577

Green NFKB2 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Immunodeficiency, common variable, 10 615577

Green NFKB2 in Primary immunodeficiency


Version 2.468
Latest signed off version: v2.1 (24 Feb 2020)

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
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Immunodeficiency, common variable, 10 615577
  • Hypogammaglobuliaemia
  • immune dysregulation
  • central adrenal insufficiency
  • Common variable immunodeficiency disorders (CVID)
  • Unclassified antibody deficiency
  • Recurrent sinopulmonary infections, alopecia and endorinopathies
  • Predominantly Antibody Deficiencies

Green NFKB2 in Respiratory ciliopathies including non-CF bronchiectasis


Version 1.45
Latest signed off version: v1.3 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • Immunodeficiency, common variable, 10, 615577
  • Bronchiectasis

Green NFKB2 in Severe Paediatric Disorders


Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 10, 615577