PCK2

phosphoenolpyruvate carboxykinase 2, mitochondrial
OMIM: 614095, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PCK2 in Mitochondrial disorders


Level 2: Mitochondrial
Version 9.41
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • PEPCK deficiency, mitochondrial, OMIM:261650
    • Abnormal gait
    • peripheral neuropathy