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COVID-19 research

Gene: IL10RA

Green List (high evidence)

IL10RA (interleukin 10 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000110324
EnsemblGeneIds (GRCh37): ENSG00000110324
OMIM: 146933, Gene2Phenotype
IL10RA is in 5 panels

4 reviews

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

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • Diseases of Immune Dysregulation
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
OMIM
146933
Clinvar variants
Variants in IL10RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: IL10RA was added gene: IL10RA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL10RA were set to 22476154; 21519361; 29059189; 28864178; 19890111; 29788474; 29248579; 29140941 Phenotypes for gene: IL10RA were set to IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Diseases of Immune Dysregulation; Inflammatory bowel disease 28, early onset, autosomal recessive, 613148