PanelApp (stage)
  1. Genes and Genomic Entities
  2. MPC1

MPC1

mitochondrial pyruvate carrier 1
OMIM: 614738, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MPC1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial pyruvate carrier deficiency, MIM# 614741

Green MPC1 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 Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial pyruvate carrier deficiency, MIM# 614741