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COVID-19 research

Gene: IL21

Green List (high evidence)

IL21 (interleukin 21)
EnsemblGeneIds (GRCh38): ENSG00000138684
EnsemblGeneIds (GRCh37): ENSG00000138684
OMIM: 605384, Gene2Phenotype
IL21 is in 4 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

Only one family identified but strong pathomechanistic support for causality
Created: 20 Jun 2018, 7:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

I don't know

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IL21 .PanelApp HGNC gene symbol check: IL21 . IUIS Disease: IL-21 deficiency . IUIS Inheritance: AR .T cells: Not assessed, .B cells: Low, .IUIS Other affected cells: N/A. IUIS Associated features: Severe early onset colitis, recurrent sinopulmonary infections. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
Created: 2 Jul 2018, 10:35 a.m.
Keep Amber until more info on gene and disease association, external expert review also rated as Amber but Immunological disorders Victorian Clinical Genetics Services and GRID rate it as Green.
Created: 21 Jun 2018, 2:23 p.m.
Noted by GRID to be similar to IL2R deficiency.
Created: 21 Jun 2018, 1:56 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IL21, GRID_Gene_Symbol: IL21, GRID_Transcript_ENS_Community submitted: ENST00000264497, GRID_Transcript_RefSeq: NM_021803.3, GRID_Transcript_ENS_used_on_Production: ENST00000264497
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunodeficiency, common variable, 11, 615767
  • Severe early onset colitis, recurrent sinopulmonary infections
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
605384
Clinvar variants
Variants in IL21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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 IL21. Added phenotypes Immunodeficiency, common variable, 11, 615767; Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity for gene: IL21 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: IL21 was added gene: IL21 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL21 were set to 32086639; 24746753; 32048120 Phenotypes for gene: IL21 were set to Immunodeficiency, common variable, 11, 615767; Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity