1. Genes and Genomic Entities
  2. MT-ATP8

MT-ATP8

mitochondrially encoded ATP synthase 8
OMIM: 516070, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green MT-ATP8 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert Review
Tags
  • gene-checked
Red MT-ATP8 in Paroxysmal central nervous system disorders


Level 2: Neurology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Green MT-ATP8 in Skeletal muscle channelopathy


Level 2: Neurology
Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • London North GLH
Phenotypes
  • Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Tags
  • gene-checked
Green MT-ATP8 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Tags
  • gene-checked
Green MT-ATP8 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
    Tags
    • gene-checked
    Green MT-ATP8 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
    Tags
    • gene-checked
    No list MT-ATP8 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed