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COVID-19 research

Gene: RAG1

Green List (high evidence)
RAG1 (recombination activating 1)
EnsemblGeneIds (GRCh38): ENSG00000166349
EnsemblGeneIds (GRCh37): ENSG00000166349
OMIM: 179615, Gene2Phenotype
RAG1 is in 6 panels

7 reviews

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): RAG1 .PanelApp HGNC gene symbol check: RAG1 . IUIS Disease: RAG1 deficiency . IUIS Inheritance: AR .T cells: Not reported, .B cells: Very low, .IUIS Other affected cells: N/A. IUIS Associated features: Nl NK. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: T-B- SCID
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RAG1, PanelApp HGNC gene symbol check: RAG1, 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: RAG1, GRID_Gene_Symbol: RAG1, GRID_Transcript_ENS_Community submitted: ENST00000299440, GRID_Transcript_RefSeq: NM_000448.2, GRID_Transcript_ENS_used_on_Production: ENST00000299440
Created: 17 Apr 2018, 12:12 p.m.
Created: 17 Apr 2018, 12:12 p.m.

Panel version: Imported from Primary immunodeficiency panel version 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Combined B and T cell defect panel version 0

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
Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Primary immunodeficiency panel version 1.94

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Combined B and T cell defect panel version 0

Christopher Duncan (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from SCID panel version 0

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
Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Primary immunodeficiency panel version 1.94

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Agreement from 5 reviewers.
Created: 20 May 2016, 2:07 p.m.
Created: 20 May 2016, 2:07 p.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from SCID panel version 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • SCID v1.6
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
  • Combined B and T cell defect v1.12
Phenotypes
  • Nl NK
  • Severe combined immunodeficiency, B cell-negative, 601457
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Severe combined immunodeficiency, B cell-negative
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • T-B- SCID
  • RAG1 deficiency
OMIM
179615
Clinvar variants
Variants in RAG1
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: RAG1 was added gene: RAG1 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG1 were set to Nl NK; Severe combined immunodeficiency, B cell-negative, 601457; Severe Combined Immune Deficiency; Atypical Severe Combined Immunodeficiency (Atypical SCID); Immunodeficiencies affecting cellular and humoral immunity; T-B+ SCID; Severe combined immunodeficiency, B cell-negative; Omenn syndrome; Severe combined immunodeficiency (SCID); T-B- SCID; RAG1 deficiency