Defects of intrinsic and innate immunity

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. More than 10 unrelated individuals reported.
Created: 16 Mar 2022, 5:28 a.m. | Last Modified: 16 Mar 2022, 5:28 a.m.
Panel Version: 0.91

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 67, MIM# 607676

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 67, MIM# 607676
OMIM
606883
Clinvar variants
Variants in IRAK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irak4 has been classified as Green List (High Evidence).

16 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRAK4 were changed from to Immunodeficiency 67, MIM# 607676

16 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IRAK4 were set to

16 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IRAK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IRAK4 was added gene: IRAK4 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IRAK4 was set to Unknown