Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: TIRAP

Red List (low 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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Staphylococcal disease during childhood
  • Defects of TLR/NFkappa-B signalling
  • TIRAP deficiency
  • Defects in intrinsic and innate immunity
OMIM
606252
Clinvar variants
Variants in TIRAP
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 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

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.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to TIRAP. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TIRAP were set to Defects of TLR/NFkappa-B signalling; TIRAP deficiency

13 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

13 Jun 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: TIRAP were set to 28235196

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TIRAP was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

TIRAP was created by Louise Daugherty