Primary immunodeficiencyGene: IRAK1
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.
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
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
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.
Gene: irak1 has been classified as Red List (Low Evidence).
Publications for gene: IRAK1 were set to 28069966
Mode of inheritance for gene: IRAK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
IRAK1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
IRAK1 was created by Louise Daugherty