MT-ATP8

mitochondrially encoded ATP synthase 8
OMIM: 516070, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MT-ATP8 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.30

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert Review

Red MT-ATP8 in Paroxysmal central nervous system disorders


Version 1.15
Latest signed off version: v1.14 (16 Dec 2021)

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH

Green MT-ATP8 in Skeletal muscle channelopathy


Version 1.24
Latest signed off version: v1.23 (16 Dec 2021)

review MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • London North GLH
Phenotypes
  • Can resemble skeletal muscle channelopathy

Green MT-ATP8 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.450

review MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
  • CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
  • BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO

Green MT-ATP8 in Inborn errors of metabolism


Version 2.105
Latest signed off version: v2.104 (16 Dec 2021)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
    • CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
    • BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO

    Green MT-ATP8 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.24
    Latest signed off version: v2.23 (16 Dec 2021)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
    • CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
    • BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO

    No list MT-ATP8 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

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

    Green MT-ATP8 in Severe Paediatric Disorders


    Version 1.66

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
    • CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
    • CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY