MT-ATP8

mitochondrially encoded ATP synthase 8
OMIM: 516070, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber MT-ATP8 in Mendeliome


Version 1.3802

1 review MITOCHONDRIAL
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP8-related
Tags
  • mtDNA

Amber MT-ATP8 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Expert list
    • Expert list
    Phenotypes
    • Mitochondrial disease MONDO:0044970, MT-ATP8 related
    Tags
    • mtDNA

    Amber MT-ATP8 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1299

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial disease MONDO:0044970, MT-ATP8 related
    Tags
    • mtDNA

    Amber MT-ATP8 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Expert list
    • Expert list
    Phenotypes
    • Mitochondrial disease MONDO:0044970, MT-ATP8 related
    Tags
    • mtDNA