PPA2

pyrophosphatase (inorganic) 2
OMIM: 609988, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PPA2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sudden cardiac failure, alcohol-induced, 617223
  • Sudden cardiac failure, infantile, 617222

Green PPA2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green PPA2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive

    Green PPA2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London South GLH
    • NHS GMS
    Phenotypes
    • Sudden cardiac failure, alcohol-induced, 617223
    • Sudden cardiac failure, infantile, 617222

    Red PPA2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Sudden cardiac failure, alcohol-induced, 617223
    • Sudden cardiac failure, infantile, 617222

    Green PPA2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive