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Primary immunodeficiency

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 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
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1
OMIM
300283
Clinvar variants
Variants in IRAK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to IRAK1. Mode of inheritance for gene IRAK1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 for gene: IRAK1 Publications for gene IRAK1 were updated from 28069966 to 32048120; 28069966; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IRAK1 were set to 28069966

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IRAK1 was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IRAK1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IRAK1 was created by Louise Daugherty