1. Genes and Genomic Entities
  2. MPC2

MPC2

mitochondrial pyruvate carrier 2
OMIM: 614737, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber MPC2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial pyruvate carrier deficiency
Red MPC2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MPC2-related metabolic disorder