IL12RB1

interleukin 12 receptor subunit beta 1
OMIM: 601604, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red IL12RB1 in Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • modification of hidradenitis suppurativa phenotype
Green IL12RB1 in COVID-19 research


Level 2: Viral research
Version 1.146

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
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
  • Immunodeficiency 30, 614891
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects in Intrinsic and Innate Immunity
Green IL12RB1 in Primary immunodeficiency or monogenic inflammatory bowel disease


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

review BIALLELIC, autosomal or pseudoautosomal
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 30, 614891
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria and Salmonella
  • Defects in Intrinsic and Innate Immunity