IL6R:Ensemblv90

interleukin 6 receptor
OMIM: 147880, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber IL6R in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent pyogenic infections, cold abscesses
  • High circulating IL-6 levels
  • High IgE
  • IgE recurrent infection syndrome, MIM#618944

Amber IL6R in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.138

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Recurrent pyogenic infections, cold abscesses
    • High circulating IL-6 levels
    • High IgE
    • IgE recurrent infection syndrome, MIM#618944

    Amber IL6R in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Recurrent pyogenic infections, cold abscesses
    • High circulating IL-6 levels
    • High IgE
    • IgE recurrent infection syndrome, MIM#618944