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COVID-19 research

Gene: TIRAP

Green List (high evidence)
TIRAP (TIR domain containing adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000150455
EnsemblGeneIds (GRCh37): ENSG00000150455
OMIM: 606252, Gene2Phenotype
TIRAP is in 2 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Incomplete penetrance
Created: 11 Jun 2018, 12:40 p.m.

Publications

Created: 11 Jun 2018, 12:40 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.821

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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 Susceptibility
Created: 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 evidence
Created: 13 Jun 2018, 10:14 a.m.
Comment on publications: Added publications suggested from external expert review
Created: 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 signalling
Created: 17 Apr 2018, 12:29 p.m.
Created: 17 Apr 2018, 12:29 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1395

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • Staphylococcal disease during childhood
  • Defects of TLR/NFkappa-B signalling
  • TIRAP deficiency
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
OMIM
606252
Clinvar variants
Variants in TIRAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to TIRAP. Added phenotypes Staphylococcal disease during childhood; Defects of TLR/NFkappa-B signalling; TIRAP deficiency; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: TIRAP Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TIRAP was added gene: TIRAP was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIRAP were set to 32086639; 32048120; 28235196 Phenotypes for gene: TIRAP were set to Staphylococcal disease during childhood; Defects of TLR/NFkappa-B signalling; TIRAP deficiency; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity