TPP2

tripeptidyl peptidase 2
OMIM: 190470, Gene2Phenotype

6 panels

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


Level 2: Viral research
Version 1.141

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


Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

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 3.79
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green TPP2 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • TPP2 deficiency