PPA1:Ensemblv90

pyrophosphatase (inorganic) 1
OMIM: 179030, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PPA1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Galactosaemia, MONDO:0018116

Red PPA1 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.59

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Galactosaemia, MONDO:0018116

    Red PPA1 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • Galactosaemia, MONDO:0018116