IL12B

interleukin 12B
OMIM: 161561, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red IL12B in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review Not set
Sources
  • Other
Phenotypes
  • Crohn disease
Green IL12B in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, 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
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
  • Immunodeficiency 29, mycobacteriosis, 614890
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  • Defects in Intrinsic and Innate Immunity
Green IL12B in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency 29, mycobacteriosis, 614890
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  • Susceptibility to mycobacteria and Salmonella
  • Defects in Intrinsic and Innate Immunity
Green IL12B in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 29, mycobacteriosis, 614890