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STRs in panel
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COVID-19 research

Gene: IRAK1

Green List (high evidence)

IRAK1 (interleukin 1 receptor associated kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000184216
EnsemblGeneIds (GRCh37): ENSG00000184216
OMIM: 300283, Gene2Phenotype
IRAK1 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications suggested from external expert review
Created: 6 Jul 2018, 12:49 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IRAK1 .PanelApp HGNC gene symbol check: IRAK1 . IUIS Disease: IRAK1 deficiency . IUIS Inheritance: XL .T cells: Low CD4+, low Treg, restricted T cell repertoire, poor TCR signaling, .B cells: N/A, .IUIS Other affected cells: Lymphocytes + Granulocytes+ Monocytes. IUIS Associated features: Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: TLR Signaling Pathway Deficiency with Bacterial Susceptibility
Created: 6 Jul 2018, 12:28 p.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

One patient. No infection phenotype
Deletion included the adjacent gene MECP2
Created: 29 Jun 2018, 9:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1
  • Defects in Intrinsic and Innate Immunity
OMIM
300283
Clinvar variants
Variants in IRAK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to IRAK1. Added phenotypes Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1; Defects in Intrinsic and Innate Immunity for gene: IRAK1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: IRAK1 was added gene: IRAK1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IRAK1 were set to 32086639; 32048120; 28069966 Phenotypes for gene: IRAK1 were set to Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1; Defects in Intrinsic and Innate Immunity