Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: IRAK4

Green List (high evidence)

IRAK4 (interleukin 1 receptor associated kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000198001
EnsemblGeneIds (GRCh37): ENSG00000198001
OMIM: 606883, Gene2Phenotype
IRAK4 is in 3 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
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): IRAK4 .PanelApp HGNC gene symbol check: IRAK4 . IUIS Disease: IRAK-4 deficiency . IUIS Inheritance: AR .T cells: Lymphopenia, decreased mitogen response, .B cells: N/A, .IUIS Other affected cells: Lymphocytes + Granulocytes+ Monocytes. IUIS Associated features: Bacterial infections (pyogens). IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: TLR Signaling Pathway Deficiency with Bacterial Susceptibility
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Amber to Green from external expert review and further publications to support gene-disease association
Created: 21 Jun 2018, 4:50 p.m.
Comment on publications: added publication to support gene-disease association
Created: 21 Jun 2018, 4:49 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: IRAK4, PanelApp HGNC gene symbol check: IRAK4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Defects of TLR/NFkappa-B signalling / Defects of TLR/NFkappa-B signalling; 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: IRAK4, GRID_Gene_Symbol: IRAK4, GRID_Transcript_ENS_Community submitted: ENST00000448290, GRID_Transcript_RefSeq: NM_016123.3, GRID_Transcript_ENS_used_on_Production: ENST00000448290
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects of TLR/NFkappa-B signalling
  • Invasive pneumococcal disease, recurrent isolated, 1, 6107
  • IRAK4 deficiency, 610799
  • Defects in Intrinsic and Innate Immunity
  • Bacterial infections (pyogens)
OMIM
606883
Clinvar variants
Variants in IRAK4
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: IRAK4 was added gene: IRAK4 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: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IRAK4 were set to 17878374; 17114497; 12637671; 16950813 Phenotypes for gene: IRAK4 were set to Defects with susceptibility to mycobacterial infection (MSMD); Defects of TLR/NFkappa-B signalling; Invasive pneumococcal disease, recurrent isolated, 1, 6107; IRAK4 deficiency, 610799; Defects in Intrinsic and Innate Immunity; Bacterial infections (pyogens)