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Primary immunodeficiency

Gene: IL2RG

Green List (high evidence)

IL2RG (interleukin 2 receptor subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000147168
EnsemblGeneIds (GRCh37): ENSG00000147168
OMIM: 308380, Gene2Phenotype
IL2RG is in 6 panels

8 reviews

Eleanor Williams (Genomics England Curator)

Comment 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

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): 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: ENST00000374202
Created: 17 Apr 2018, 12:12 p.m.

Christopher Duncan (Newcastle University)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
SCID

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

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 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.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • 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
Tags
gene-therapy-trial
OMIM
308380
Clinvar variants
Variants in IL2RG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: il2rg has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

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)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IL2RG.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to IL2RG.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to IL2RG.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to IL2RG. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to IL2RG. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: il2rg has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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)

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

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)

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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)

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

IL2RG Source: GOSH PID 20171161 was removed from gene: IL2RG

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to IL2RG. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IL2RG was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, SCID v1.6

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

IL2RG was created by Louise Daugherty