Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL21After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and should remain amber.Created: 8 Mar 2022, 2:56 p.m. | Last Modified: 8 Mar 2022, 2:56 p.m.
Panel Version: 2.533
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
Only one family identified but strong pathomechanistic support for causalityCreated: 20 Jun 2018, 7:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 ImmunodeficiencyCreated: 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: ENST00000264497Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: IL21 were changed from Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiency, common variable, 11, 615767; Immunodeficiencies affecting cellular and humoral immunity to Immunodeficiency, common variable, 11 , OMIM:615767; Severe early onset colitis, recurrent sinopulmonary infections; Immunodeficiencies affecting cellular and humoral immunity
Gene: il21 has been classified as Amber List (Moderate Evidence).
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)
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
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.
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
IUIS Classification February 2018 was added to IL21. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IL21. Panel: Primary immunodeficiency disorders
Gene: il21 has been classified as Amber List (Moderate Evidence).
Publications for gene: IL21 were set to 24746753
Phenotypes for gene: IL21 were set to Immunodeficiency, common variable, 11, 615767
Expert Review Amber was added to IL21. Panel: Primary immunodeficiency disorders
Phenotypes for gene IL21 were set to Immunodeficiency, common variable, 11
IL21 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
IL21 was created by Louise Daugherty