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COVID-19 research

Gene: IL10

Green List (high evidence)

IL10 (interleukin 10)
EnsemblGeneIds (GRCh38): ENSG00000136634
EnsemblGeneIds (GRCh37): ENSG00000136634
OMIM: 124092, Gene2Phenotype
IL10 is in 7 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): IL10 .PanelApp HGNC gene symbol check: IL10 . IUIS Disease: IL-10 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis,. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Immune Dysregulation with Colitis
Created: 2 Jul 2018, 10:35 a.m.
Proteasome component, pronounced lymphopenia due to apoptosis of stimulated T cells
Created: 29 Jun 2018, 9:16 a.m.
Comment on phenotypes: added phenotype from orphanet. Rated green by expert review. Currently two cases reported in a recent publication (homozygous for the same variant), with mouse model evidence that IL-10 null mice spontaneously develop colitis or are more susceptible to induction of colitis by infections, drugs, and autoimmune reactions (PMID: 20951137). On Orphanet: "Disease-causing germline mutation(s) (loss of function) in Autosomal recessive early-onset inflammatory bowel disease".
Created: 27 Jun 2018, 1:54 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, PanelApp HGNC gene symbol check: IL10, 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: IL10, GRID_Gene_Symbol: IL10, GRID_Transcript_ENS_Community submitted: ENST00000423557, GRID_Transcript_RefSeq: NM_000572.2, GRID_Transcript_ENS_used_on_Production: ENST00000423557
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Early-onset inflammatory bowel disease
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis,
  • Diseases of Immune Dysregulation
OMIM
124092
Clinvar variants
Variants in IL10
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: IL10 was added gene: IL10 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: IL10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL10 were set to 19890111; 20951137 Phenotypes for gene: IL10 were set to Early-onset inflammatory bowel disease; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis,; Diseases of Immune Dysregulation