Genomics England
GMS Panels
Panels
Genes and Entities

IL21R

interleukin 21 receptor
OMIM: 605383
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
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