MPST:Ensemblv90

mercaptopyruvate sulfurtransferase
OMIM: 602496, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red MPST in Mendeliome


Version 1.3802

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Red MPST in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.138

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review Unknown
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585

    Red MPST in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

    1 review Unknown
    Sources
    • ClinGen
    • Expert Review Red
    Phenotypes
    • encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585