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Severe multi-system atopic disease with high IgE

Gene: IL21R

Red List (low evidence)

IL21R (interleukin 21 receptor)
EnsemblGeneIds (GRCh38): ENSG00000103522
EnsemblGeneIds (GRCh37): ENSG00000103522
OMIM: 605383, Gene2Phenotype
IL21R is in 3 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • [IgE, elevated level of], 147050Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207
OMIM
605383
Clinvar variants
Variants in IL21R
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

Literature search, UKGTN search - no other genes identified for Hyper-IgE syndrome

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

IL21R was added to Severe multi-system atopic disease with high IgEpanel. Sources: Radboud University Medical Center, Nijmegen