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  2. Defects of intrinsic and innate immunity
  3. IRAK1
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Defects of intrinsic and innate immunity

Gene: IRAK1

Red List (low evidence)
IRAK1 (interleukin 1 receptor associated kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000184216
EnsemblGeneIds (GRCh37): ENSG00000184216
OMIM: 300283, Gene2Phenotype
IRAK1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies.
Sources: Expert list
Created: 5 Apr 2020, 8:47 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Susceptibility to bacterial infections

Publications

Created: 5 Apr 2020, 8:47 a.m.

Panel version: 0.15

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Susceptibility to bacterial infections
Tags
SV/CNV
OMIM
300283
Clinvar variants
Variants in IRAK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: IRAK1.

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irak1 has been classified as Red List (Low Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IRAK1 was added gene: IRAK1 was added to Defects of innate immunity. Sources: Expert list 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 28069966 Phenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections Review for gene: IRAK1 was set to RED