Genomics England
GMS Panels
Panels
Genes and Entities

IL2RB

interleukin 2 receptor subunit beta
OMIM: 146710
PanelMode of inheritanceDetails
1 panel
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CD122 deficiency, Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections, Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495