Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IL21

After 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

• 24746753

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

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.