OPLAH

5-oxoprolinase, ATP-hydrolysing
OMIM: 614243, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber OPLAH in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • 5-oxoprolinase deficiency MIM#260005
  • Disorders of the gamma-glutamyl cycle
Tags
  • disputed

Amber OPLAH in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • 5-oxoprolinase deficiency MIM#260005
    • Disorders of the gamma-glutamyl cycle

    Red OPLAH in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • 5-oxoprolinase deficiency MONDO:0009825
    • Disorders of glutathione metabolism