PanelApp (test)
  1. Genes and Genomic Entities
  2. IL6R

IL6R

interleukin 6 receptor
OMIM: 147880, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber IL6R in Mendeliome


Version 1.1902

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 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  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