IL21R

interleukin 21 receptor
OMIM: 605383, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red IL21R in Severe multi-system atopic disease with high IgE

Level 3: Atopy
Level 2: Dermatological disorders
Version 1.8

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • [IgE, elevated level of], 147050Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207

Green IL21R in COVID-19 research


Level 2: Viral research
Version 1.80

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
  • Combined immunodeficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiency 56, 615207
  • Immunodeficiencies affecting cellular and humoral immunity
  • Omenn syndrome
  • Immunodeficiency, primary, autosomal recessive, IL21R-related
  • IL-21R deficiency
  • Severe combined immunodeficiency (SCID)
  • Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease

Green IL21R in Primary immunodeficiency


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency 56, 615207
  • Immunodeficiency, primary, autosomal recessive, IL21R-related
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • IL-21R deficiency
  • Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease
  • Immunodeficiencies affecting cellular and humoral immunity

Green IL21R in Severe Paediatric Disorders


Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 56, 615207