COVID-19 research
Gene: IL2RBComment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants reported in at least 5 unrelated families (two families with the same variant had shared ethnic heritage PMID 31040185).Created: 7 May 2020, 1:23 p.m. | Last Modified: 7 May 2020, 1:23 p.m.
Panel Version: 0.203
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
very early onset inflammatory bowel disease; CMV disease; dermatitis; immune dysregulation
Gene: il2rb has been classified as Green List (High Evidence).
Source Expert Review Green was added to IL2RB. Added phenotypes Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495; CD122 deficiency for gene: IL2RB Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: IL2RB was added gene: IL2RB was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RB were set to 32086639; 31040185; 32048120; 31040184 Phenotypes for gene: IL2RB were set to Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495; CD122 deficiency