IKBKB

inhibitor of nuclear factor kappa B kinase subunit beta
OMIM: 603258, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green IKBKB in COVID-19 research


Level 2: Viral research
Version 1.142

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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
  • Immunodeficiency 15A, OMIM:618204 (AD)
  • Immunodeficiency 15B, OMIM:615592 (AR)
  • Combined immunodeficiency
  • Recurrent bacterial, viral, fungal infections, opportunistic infections
  • Immunodeficiencies affecting cellular and humoral immunity
Green IKBKB in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency 15A, OMIM:618204 (AD)
  • Immunodeficiency 15B, OMIM:615592 (AR)
  • Combined immunodeficiency
  • Recurrent bacterial, viral, fungal infections, opportunistic infections
  • Immunodeficiencies affecting cellular and humoral immunity
Green IKBKB in Severe Paediatric Disorders


Version 1.184

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 15A, 618204
  • Immunodeficiency 15B, 615592