IL6R

interleukin 6 receptor
OMIM: 147880, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green IL6R in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • Eczema
  • Recurrent infections
  • Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels
  • Hyper-IgE
  • Combined immunodeficiencies with associated or syndromic features
Green IL6R in Primary immunodeficiency or monogenic inflammatory bowel disease


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • [Interleukin 6, serum level of, QTL] 614752
  • [Interleukin-6 receptor, soluble, serum level of, QTL] 614689
  • Hyper-IgE
  • Eczema
  • Recurrent infections
  • Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels
  • Combined immunodeficiencies with associated or syndromic features