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COVID-19 research

Gene: IRF8

Green List (high evidence)

IRF8 (interferon regulatory factor 8)
EnsemblGeneIds (GRCh38): ENSG00000140968
EnsemblGeneIds (GRCh37): ENSG00000140968
OMIM: 601565, Gene2Phenotype
IRF8 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, 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): IRF8 .PanelApp HGNC gene symbol check: IRF8 . IUIS Disease: IRF8 deficiency (AD) . IUIS Inheritance: AD .T cells: Increased activated T cells, .B cells: N/A, .IUIS Other affected cells: CD1c+ MDC. IUIS Associated features: Susceptibility to mycobacteria. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Mendelian Susceptibility to mycobacterial disease (MSMD). // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IRF8 .PanelApp HGNC gene symbol check: IRF8 . IUIS Disease: IRF8 deficiency (AR) . IUIS Inheritance: AR .T cells: Low CD4 Low recent thymic emigrant cels, poor proliferation to CD3 , .B cells: N/A, .IUIS Other affected cells: CD1c+ MDC. IUIS Associated features: Susceptibility to mycobacteria and multiple other infectious agents. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Mendelian Susceptibility to mycobacterial disease (MSMD).
Created: 2 Jul 2018, 10:54 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, 10:24 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 21 Jun 2018, 10:23 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 21 Jun 2018, 10:16 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: IRF8, PanelApp HGNC gene symbol check: IRF8, 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: IRF8, GRID_Gene_Symbol: IRF8, GRID_Transcript_ENS_Community submitted: ENST00000268638, GRID_Transcript_RefSeq: NM_002163.2, GRID_Transcript_ENS_used_on_Production: ENST00000268638
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990
  • Susceptibility to mycobacteria and multiple other infectious agents
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria
  • familial NK cell deficiency
  • Defects in Intrinsic and Innate Immunity
OMIM
601565
Clinvar variants
Variants in IRF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: irf8 has been classified as Green List (High Evidence).

1 Apr 2020, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene IRF8 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990; Susceptibility to mycobacteria and multiple other infectious agents; Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893; Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: IRF8 Publications for gene IRF8 were updated from 27893462 to 25122610; 22464253; 21524210; 22046141; 27893462

6 Nov 2017, Gel status: 1

Removed Source, Removed Source, Removed Source, Removed Source, Added New Source

Ellen McDonagh (Genomics England Curator)

Source UKGTN was removed from IRF8. Panel: Monogenic viral susceptibility Source Radboud University Medical Center, Nijmegen was removed from IRF8. Panel: Monogenic viral susceptibility Source Illumina TruGenome Clinical Sequencing Services was removed from IRF8. Panel: Monogenic viral susceptibility Source Emory Genetics Laboratory was removed from IRF8. Panel: Monogenic viral susceptibility Literature was added to IRF8. Panel: Monogenic viral susceptibility

6 Nov 2017, Gel status: 0

Added New Source

Ellie McDonagh (Genomics England)

IRF8 was added to Monogenic viral susceptibility panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

6 Nov 2017, Gel status: 0

Created

Ellie McDonagh (Genomics England)

IRF8 was created by Ellie McDonagh