MT-ATP6

mitochondrially encoded ATP synthase 6
OMIM: 516060, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red MT-ATP6 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Leigh syndrome, MONDO:0009723

    Green MT-ATP6 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency
    Tags
    • mtDNA