Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IL2RGComment 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, 1:12 p.m. | Last Modified: 14 Oct 2020, 1:12 p.m.
Panel Version: 2.263
The following PubMed IDs were added to gene IL2RG (OMIM gene MIM#308380): 8462096;9921912;8712778;7668284. These publications have been associated with the gene by the immunodeficiencies 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
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): IL2RG .PanelApp HGNC gene symbol check: IL2RG . IUIS Disease: gc deficiency (common gamma chain SCID, CD132 deficiency) . IUIS Inheritance: XL .T cells: Normal, .B cells: Normal to high, .IUIS Other affected cells: N/A. IUIS Associated features: Low NK. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: T-B+ Severe Combined Immune Deficiency (SCID)Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: Gamma C (x-linked), PanelApp HGNC gene symbol check: IL2RG, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Atypical Severe Combined Immunodeficiency (Atypical SCID) / Atypical Severe Combined Immunodeficiency (Atypical SCID); Combined immunodeficiencies / Omenn syndrome / Omenn syndrome; Combined immunodeficiencies / Severe combined immunodeficiency (SCID) / Severe combined immunodeficiency (SCID)Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IL2RG, GRID_Gene_Symbol: IL2RG, GRID_Transcript_ENS_Community submitted: ENST00000374202, GRID_Transcript_RefSeq: NM_000206.2, GRID_Transcript_ENS_used_on_Production: ENST00000374202Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SCID
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
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:47 a.m.
Comment on mode of inheritance: OMIM does indicate that it is X-linked recessive (biallelic in females), however two reviewers have indicated that monoallelic mutations in females can cause the disorder, and as this is the default X-linked setting this will be retained.Created: 20 May 2016, 2:05 p.m.
Comment on list classification: 5 reviewers agree.Created: 20 May 2016, 2:03 p.m.
Gene: il2rg has been classified as Green List (High Evidence).
Source Other was added to IL2RG. Publications for gene IL2RG were updated from to 8712778; 9921912; 8462096; 7668284 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to IL2RG.
Source North West GLH was added to IL2RG.
Source London North GLH was added to IL2RG.
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 IL2RG were set to Combined immunodeficiency, X-linked, moderate, Severe combined immunodeficiency, X-linked, Severe combined immunodeficiency, X-linked, 300400, Severe Combined Immune Deficiency, T-B+ SCID, SCID, SCID (x-linked), Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID), Low NK, Immunodeficiencies affecting cellular and humoral immunity
IUIS Classification February 2018 was added to IL2RG. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IL2RG. Panel: Primary immunodeficiency disorders
Gene: il2rg has been classified as Green List (High Evidence).
ESID Registry 20171117 was added to IL2RG. Panel: Primary immunodeficiency disorders Phenotypes for gene IL2RG were set to Combined immunodeficiency, X-linked, moderate, Severe combined immunodeficiency, X-linked, Severe combined immunodeficiency, X-linked, 300400, Severe Combined Immune Deficiency, T-B+ SCID, SCID, SCID (x-linked), Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID)
Phenotypes for gene IL2RG were set to Combined immunodeficiency, X-linked, moderate, Severe combined immunodeficiency, X-linked, Severe combined immunodeficiency, X-linked, 300400, Severe Combined Immune Deficiency, T-B+ SCID, SCID, SCID (x-linked)
GRID V2.0 was added to IL2RG. Panel: Primary immunodeficiency disorders Phenotypes for gene IL2RG were set to Combined immunodeficiency, X-linked, moderate, Severe combined immunodeficiency, X-linked, Severe combined immunodeficiency, X-linked, 300400, Severe Combined Immune Deficiency, T-B+ SCID, SCID, SCID (x-linked)
IL2RG Source: GOSH PID 20171161 was removed from gene: IL2RG
GOSH PID v.8.0 was added to IL2RG. Panel: Primary immunodeficiency disorders
GOSH PID 20171161 was added to IL2RG. Panel: Primary immunodeficiency disorders Model of inheritance for gene IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
IL2RG was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, SCID v1.6
IL2RG was created by Louise Daugherty