Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: IL21

Amber List (moderate evidence)

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

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 12:13 p.m. | Last Modified: 14 Oct 2020, 12:13 p.m.
Panel Version: 2.212
The following PubMed IDs were added to entity IL21: 24746753. These publications have been associated with OMIM phenotype MIM#615767, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

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
  • Expert Review Amber
  • Other
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Severe early onset colitis, recurrent sinopulmonary infections
  • Immunodeficiency, common variable, 11, 615767
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
605384
Clinvar variants
Variants in IL21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: il21 has been classified as Amber List (Moderate Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to IL21. Publications for gene IL21 were updated from 32048120; 24746753; 32086639 to 32086639; 24746753; 32048120 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to IL21. Added phenotypes Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity for gene: IL21 Publications for gene IL21 were updated from 24746753 to 32048120; 24746753; 32086639

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to IL21. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to IL21. Panel: Primary immunodeficiency disorders

21 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il21 has been classified as Amber List (Moderate Evidence).

21 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IL21 were set to 24746753

21 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IL21 were set to Immunodeficiency, common variable, 11, 615767

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to IL21. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IL21 were set to Immunodeficiency, common variable, 11

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IL21 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IL21 was created by Louise Daugherty