TPP2

tripeptidyl peptidase 2
OMIM: 190470, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green TPP2 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
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
Amber TPP2 in Adult onset leukodystrophy


Level 2: Neurology
Version 6.8
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • White matter abnormalities
  • Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220
Green TPP2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Tripeptidyl-Peptidase II Deficiency
  • TPP2 deficiency
  • Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  • immune thrombocytopenia and autoimmune hemolytic anemia
  • Evans syndrome
  • Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections
  • Diseases of Immune Dysregulation
  • Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220
Green TPP2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    • Literature
    Phenotypes
    • autoimmunity
    • Developmental delay
    • immunodefficiency
    • TPP2-related immune deficiency, autoimmune disease and intellectual disability
    Green TPP2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220