MPC2

mitochondrial pyruvate carrier 2
OMIM: 614737, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MPC2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related

Amber MPC2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    • Literature
    Phenotypes
    • mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related