Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL10Comment 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: 2.257
The following PubMed IDs were added to gene IL10 (OMIM gene MIM#124092): 22236434. These publications have been associated with the gene 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
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 ColitisCreated: 2 Jul 2018, 10:35 a.m.
Proteasome component, pronounced lymphopenia due to apoptosis of stimulated T cellsCreated: 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 diseaseCreated: 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: ENST00000423557Created: 17 Apr 2018, 12:12 p.m.
Gene: il10 has been classified as Green List (High Evidence).
Source Other was added to IL10. Publications for gene IL10 were updated from 19890111; 20951137 to 19890111; 20951137; 22236434 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to IL10.
Source North West GLH was added to IL10.
Source London North GLH was added to IL10.
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 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
Gene: il10 has been classified as Green List (High Evidence).
Publications for gene: IL10 were set to 19890111; 20951137
Gene: il10 has been classified as Green List (High Evidence).
Phenotypes for gene: IL10 were set to Early-onset inflammatory bowel disease; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Publications for gene: IL10 were set to 19890111
Publications for gene: IL10 were set to 12759436
IUIS Classification February 2018 was added to IL10. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IL10. Panel: Primary immunodeficiency disorders
Phenotypes for IL10 were set to Early-onset inflammatory bowel disease
Expert Review Amber was added to IL10. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to IL10. Panel: Primary immunodeficiency disorders Phenotypes for gene IL10 were set to Early onset inflammatory bowel disease, Early-onset inflammatory bowel disease
Phenotypes for gene IL10 were set to Early onset inflammatory bowel disease
GRID V2.0 was added to IL10. Panel: Primary immunodeficiency disorders Model of inheritance for gene IL10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene IL10 were set to Early onset inflammatory bowel disease
IL10 Source: GOSH PID 20171158 was removed from gene: IL10
GOSH PID v.8.0 was added to IL10. Panel: Primary immunodeficiency disorders
IL10 was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171158
IL10 was created by Louise Daugherty