Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: IL2RB

Green List (high evidence)

IL2RB (interleukin 2 receptor subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000100385
EnsemblGeneIds (GRCh37): ENSG00000100385
OMIM: 146710, Gene2Phenotype
IL2RB is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment 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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
very early onset inflammatory bowel disease; CMV disease; dermatitis; immune dysregulation

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495
  • CD122 deficiency
OMIM
146710
Clinvar variants
Variants in IL2RB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: il2rb has been classified as Green List (High Evidence).

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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