MT-ATP6

mitochondrially encoded ATP synthase 6
OMIM: 516060, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Red MT-ATP6 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinal degeneration and nystagmus
  • Nystagmus
  • Optic neuropathy and nystagmus

Green MT-ATP6 in Skeletal Muscle Channelopathies

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

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert Review

Green MT-ATP6 in Ataxia and cerebellar anomalies - narrow panel


Version 2.65
Latest signed off version: v2.64 (16 Dec 2021)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • Neuropathy, Ataxia, and Retinitis Pigmentosa

    Green MT-ATP6 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.232

    review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Neuropathy, Ataxia, and Retinitis Pigmentosa

    Red MT-ATP6 in Albinism or congenital nystagmus


    Version 1.19
    Latest signed off version: v1.18 (4 Aug 2021)

    review MITOCHONDRIAL
    Sources
    • Expert Review Red
    Phenotypes
    • Retinal degeneration and nystagmus
    • Optic neuropathy and nystagmus
    • Nystagmus

    Green MT-ATP6 in Structural basal ganglia disorders

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Literature

    Red MT-ATP6 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
    Phenotypes
    • Neuropathy, ataxia, and retinitis pigmentosa, 551500

    Green MT-ATP6 in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.38
    Latest signed off version: v2.2 (19 Feb 2020)

    review MITOCHONDRIAL
    Sources
    • London North GLH
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Leber optic atrophy
    • 535000
    • neurogenic weakness, ataxia, and retinitis pigmentosa
    • retinopathy

    Green MT-ATP6 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

    Red MT-ATP6 in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neuropathy, Ataxia, and Retinitis Pigmentosa

    Green MT-ATP6 in Undiagnosed metabolic disorders

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

    review MITOCHONDRIAL
    Sources
    • Expert Review Green

    Green MT-ATP6 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

    Green MT-ATP6 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.394

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review

    Red MT-ATP6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • n/a

    Green MT-ATP6 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
    • Emory Genetics Laboratory
    • UKGTN

    Green MT-ATP6 in Hereditary ataxia - adult onset


    Version 2.36
    Latest signed off version: v2.35 (16 Dec 2021)

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500
    • Neuropathy, Ataxia, and Retinitis Pigmentosa

    Red MT-ATP6 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.173
    Latest signed off version: v2.7 (25 Feb 2020)

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa

    Red MT-ATP6 in Adult onset movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH

    Green MT-ATP6 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.28
    Latest signed off version: v1.27 (16 Dec 2021)

    review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert Review
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH

    No list MT-ATP6 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
    Phenotypes
    • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
    Tags
    • curated_removed

    Green MT-ATP6 in Severe Paediatric Disorders


    Version 1.66

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • LEBER OPTIC ATROPHY
    • LEIGH SYNDROME
    • NARP SYNDROME
    • SEIZURES AND LACTIC ACIDOSIS
    • BILATERAL STRIATAL NECROSIS