PPA1

pyrophosphatase (inorganic) 1
OMIM: 179030, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PPA1 in Mendeliome


Version 1.2302

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 1.48

Component of the following Super Panels:

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