Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TIRAP
Incomplete penetranceCreated: 11 Jun 2018, 12:40 p.m.
Publications
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TIRAP .PanelApp HGNC gene symbol check: TIRAP . IUIS Disease: TIRAP deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Lymphocytes + Granulocytes+ Monocytes. IUIS Associated features: Staphylococcal disease during childhood. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: TLR Signaling Pathway Deficiency with Bacterial SusceptibilityCreated: 2 Jul 2018, 10:35 a.m.
External expert review notes Red status and Incomplete penetrance , so I have kept this gene Red on this panel until further evidenceCreated: 13 Jun 2018, 10:14 a.m.
Comment on publications: Added publications suggested from external expert reviewCreated: 13 Jun 2018, 10:14 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TIRAP, PanelApp HGNC gene symbol check: TIRAP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Defects of TLR/NFkappa-B signalling / Defects of TLR/NFkappa-B signallingCreated: 17 Apr 2018, 12:29 p.m.
Source IUIS Classification December 2019 was added to TIRAP. Mode of inheritance for gene TIRAP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Defects in intrinsic and innate immunity; Staphylococcal disease during childhood for gene: TIRAP Publications for gene TIRAP were updated from 28235196 to 32048120; 28235196; 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.
Phenotypes for gene TIRAP were set to Defects of TLR/NFkappa-B signalling, TIRAP deficiency, Staphylococcal disease during childhood, Defects in Intrinsic and Innate Immunity
IUIS Classification February 2018 was added to TIRAP. Panel: Primary immunodeficiency disorders
Phenotypes for gene: TIRAP were set to Defects of TLR/NFkappa-B signalling; TIRAP deficiency
Gene: tirap has been classified as Red List (Low Evidence).
Publications for gene: TIRAP were set to 28235196
TIRAP was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
TIRAP was created by Louise Daugherty