Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: IFNGR1

Green List (high evidence)

IFNGR1 (interferon gamma receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000027697
EnsemblGeneIds (GRCh37): ENSG00000027697
OMIM: 107470, Gene2Phenotype
IFNGR1 is in 4 panels

4 reviews

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

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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): IFNGR1 .PanelApp HGNC gene symbol check: IFNGR1 . IUIS Disease: IFN-g receptor 1 deficiency . IUIS Inheritance: AR /AD .T cells: Normal to decreased, .B cells: N/A, .IUIS Other affected cells: M + L. IUIS Associated features: Susceptibility to mycobacteria and Salmonella. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Mendelian Susceptibility to mycobacterial disease (MSMD)
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease association
Created: 21 Jun 2018, 12:57 p.m.
Comment on publications: added publication to support gene-disease association
Created: 21 Jun 2018, 12:57 p.m.
Comment on phenotypes: added MOI to phenotypes and OMIM MIMid
Created: 21 Jun 2018, 12:55 p.m.
Comment on mode of inheritance: amended MOI from expert review, and reflected this in the phenotypes
Created: 21 Jun 2018, 12:54 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: IFNGR1, PanelApp HGNC gene symbol check: IFNGR1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Defects with susceptibility to mycobacterial infection (MSMD) / Defects with susceptibility to mycobacterial infection (MSMD)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IFNGR1, GRID_Gene_Symbol: IFNGR1, GRID_Transcript_ENS_Community submitted: ENST00000367739, GRID_Transcript_RefSeq: NM_000416.2, GRID_Transcript_ENS_used_on_Production: ENST00000367739
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunodeficiency 27A, (AR) 209950
  • Susceptibility to mycobacteria and Salmonella
  • Mycobacteriosis
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects in Intrinsic and Innate Immunity
  • Immunodeficiency 27B, (AD) 615978
OMIM
107470
Clinvar variants
Variants in IFNGR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: IFNGR1 was added gene: IFNGR1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: IFNGR1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: IFNGR1 were set to 8960473; 8960475; 9389728; 9497247 Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, (AR) 209950; Susceptibility to mycobacteria and Salmonella; Mycobacteriosis; Defects with susceptibility to mycobacterial infection (MSMD); Defects in Intrinsic and Innate Immunity; Immunodeficiency 27B, (AD) 615978