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22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 3
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2

Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL10RA

IL10RA (interleukin 10 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000110324
EnsemblGeneIds (GRCh37): ENSG00000110324
OMIM: 146933, Gene2Phenotype
IL10RA is in 4 panels

5 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green 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, 12:59 p.m. | Last Modified: 14 Oct 2020, 12:59 p.m.

Panel Version: 2.258

The following PubMed IDs were added to entity IL10RA: 22236434. These publications have been associated with OMIM phenotype MIM#613148, which is listed for this entity, by the immunedysregulation 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

22236434

Created: 13 Oct 2020, 9:36 a.m.
Last Modified: 13 Oct 2020, 9:36 a.m.
Panel version: 2.208

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 20 Jun 2018, 8:12 p.m.

Panel version: 0.1127

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IL10RA .PanelApp HGNC gene symbol check: IL10RA . IUIS Disease: IL-10Ra deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Immune Dysregulation with Colitis
Created: 2 Jul 2018, 10:35 a.m.

Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease association
Created: 27 Jun 2018, 3:01 p.m.

added early-onset tag
Created: 27 Jun 2018, 2:57 p.m.

Comment on publications: Added publications suggested to support upgrading of the gene to Green
Created: 27 Jun 2018, 2:56 p.m.

Comment on phenotypes: added phenotype from orphanet and omim MIMid
Created: 27 Jun 2018, 2:13 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 downloaded from ESID Registry. ESID_Gene_original: ILR10 receptor alpha chain, PanelApp HGNC gene symbol check: IL10RA, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Early-onset inflammatory bowel disease / Early-onset inflammatory bowel disease
Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IL10RA, GRID_Gene_Symbol: IL10RA, GRID_Transcript_ENS_Community submitted: ENST00000227752, GRID_Transcript_RefSeq: NM_001558.3, GRID_Transcript_ENS_used_on_Production: ENST00000227752
Created: 17 Apr 2018, 12:12 p.m.

Created: 17 Apr 2018, 12:12 p.m.

Panel version: 1.94

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other
NHS GMS
North West GLH
London North GLH
IUIS Classification February 2018
Victorian Clinical Genetics Services
ESID Registry 20171117
GRID V2.0
GOSH PID v.8.0

Phenotypes

Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
Diseases of Immune Dysregulation

Tags

early-onset

OMIM

146933

Clinvar variants

Variants in IL10RA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: il10ra has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to IL10RA. Publications for gene IL10RA were updated from 19890111; 21519361; 22476154; 29788474; 29248579; 29140941; 28864178; 29059189 to 22476154; 29248579; 19890111; 21519361; 29059189; 29140941; 28864178; 22236434; 29788474 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3