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Immunological disorders_SuperPanel_PanelAppAustralia

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

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Details

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

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: IL2RB was added gene: IL2RB was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RB were set to 31040185; 31040184 Phenotypes for gene: IL2RB were set to Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections; Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM#618495