Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL1RNComment 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, 1 p.m. | Last Modified: 14 Oct 2020, 1 p.m.
Panel Version: 2.260
The following PubMed IDs were added to entity IL1RN: 22127713;19494218;19494219. These publications have been associated with OMIM phenotype MIM#612852, which is listed for this entity, by the autoinflammation 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DIRA
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 7 unrelated cases.Created: 19 Jun 2018, 3:10 p.m.
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): IL1RN .PanelApp HGNC gene symbol check: IL1RN . IUIS Disease: DIRA (Deficiency of the Interleukin 1 Receptor Antagonist) . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: PMNs, Monocytes. IUIS Associated features: Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis.. IUIS Major category: Autoinflammatory Disorders. IUIS Subcategory: Non-Inflammasome Related ConditionsCreated: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: added phenotype suggested by expert reviewCreated: 27 Jun 2018, 3:35 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: IL1RN, PanelApp HGNC gene symbol check: IL1RN, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Autoinflammatory disorders / Other autoinflammatory diseases with known genetic defect / Other autoinflammatory diseases with known genetic defectCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IL1RN, GRID_Gene_Symbol: IL1RN, GRID_Transcript_ENS_Community submitted: ENST00000259206, GRID_Transcript_RefSeq: NM_173841.2, GRID_Transcript_ENS_used_on_Production: ENST00000259206Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: IL1RN were changed from Interleukin 1 receptor antagonist deficiency 612852; sterile multifocal osteomyelitis, periostitis, and pustulosis; Other autoinflammatory diseases with known genetic defect; DIRA; Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis.; Autoinflammatory Disorders to Interleukin 1 receptor antagonist deficiency, OMIM:612852; Sterile multifocal osteomyelitis, periostitis, and pustulosis; DIRA; Autoinflammatory Disorders
Gene: il1rn has been classified as Green List (High Evidence).
Source Other was added to IL1RN. Publications for gene IL1RN were updated from 19494218; 19494219 to 19494219; 22127713; 19494218 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to IL1RN.
Source North West GLH was added to IL1RN.
Source London North GLH was added to IL1RN.
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 IL1RN were set to Interleukin 1 receptor antagonist deficiency 612852, sterile multifocal osteomyelitis, periostitis, and pustulosis, Other autoinflammatory diseases with known genetic defect, DIRA, Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis., Autoinflammatory Disorders
Gene: il1rn has been classified as Green List (High Evidence).
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency 612852; sterile multifocal osteomyelitis, periostitis, and pustulosis; Other autoinflammatory diseases with known genetic defect; DIRA
IUIS Classification February 2018 was added to IL1RN. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IL1RN. Panel: Primary immunodeficiency disorders
Gene: il1rn has been classified as Green List (High Evidence).
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency 612852; sterile multifocal osteomyelitis, periostitis, and pustulosis; Other autoinflammatory diseases with known genetic defect
Mode of inheritance for gene: IL1RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL1RN were set to 19494218; 19494219
Publications for gene: IL1RN were set to 19494218
Expert Review Amber was added to IL1RN. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to IL1RN. Panel: Primary immunodeficiency disorders Phenotypes for gene IL1RN were set to Interleukin 1 receptor antagonist deficiency, Other autoinflammatory diseases with known genetic defect
Phenotypes for gene IL1RN were set to Interleukin 1 receptor antagonist deficiency
IL1RN was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
IL1RN was created by Louise Daugherty