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COVID-19 research

Gene: TPP2

Green List (high evidence)

TPP2 (tripeptidyl peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000134900
EnsemblGeneIds (GRCh37): ENSG00000134900
OMIM: 190470, Gene2Phenotype
TPP2 is in 3 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Personal correspondence has revealed 6 cases (5 confirmed genetically) in 3 unrelated families
Created: 2 Jul 2018, 12:42 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TPP2 .PanelApp HGNC gene symbol check: TPP2 . IUIS Disease: Tripeptidyl-Peptidase II Deficiency . IUIS Inheritance: AR .T cells: Reduced, defective lymphocyte responses to anti-CD3, .B cells: Decreased , .IUIS Other affected cells: N/A. IUIS Associated features: Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections . IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmunity with or without Lymphoproliferation
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert review.
Created: 27 Jun 2018, 5:03 p.m.
Changed from Amber to Green, although there is no pathogenic variant reported in ClinVar, Stepensky et al. (2015) PMID:25414442 described two siblings that presented with Evans syndrome, viral infections, and progressive leukopenia. This also led to biochemical studies showing a broader principle governing the immune system: that intracellular amino acid homeostasis is inextricably linked, through aerobic glycolysis, to immune effector functions . The gene is rated Green by external expert review giving supportive evidence, and is on Victorian Clinical Genetics Services and GRID panels, so it was decided to rate this gene as green.
Created: 27 Jun 2018, 4:46 p.m.
Comment on phenotypes: added phenotype from orphanet
Created: 27 Jun 2018, 4:38 p.m.
Comment on mode of inheritance: added MOI from external expert review
Created: 27 Jun 2018, 4:30 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 11:49 a.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TPP2, GRID_Gene_Symbol: TPP2, GRID_Transcript_ENS_Community submitted: ENST00000376065, GRID_Transcript_RefSeq: NM_003291, GRID_Transcript_ENS_used_on_Production: ENST00000376065
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • immune thrombocytopenia and autoimmune hemolytic anemia
  • Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  • TPP2 deficiency
  • Tripeptidyl-Peptidase II Deficiency
  • Diseases of Immune Dysregulation
  • Evans syndrome
  • Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections
OMIM
190470
Clinvar variants
Variants in TPP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: TPP2 was added gene: TPP2 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP2 were set to 25525876; 25414442 Phenotypes for gene: TPP2 were set to immune thrombocytopenia and autoimmune hemolytic anemia; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome; TPP2 deficiency; Tripeptidyl-Peptidase II Deficiency; Diseases of Immune Dysregulation; Evans syndrome; Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections