Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IRAK1Comment on publications: Added publications suggested from external expert reviewCreated: 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 SusceptibilityCreated: 6 Jul 2018, 12:28 p.m.
One patient. No infection phenotype
Deletion included the adjacent gene MECP2Created: 29 Jun 2018, 9:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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