1. Genes and Genomic Entities
  2. MT-ATP6

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 1.11

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 1.48

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Expert Review
Tags
  • gene-checked
Green MT-ATP6 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

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
    Tags
    • gene-checked
    Green MT-ATP6 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Neuropathy, Ataxia, and Retinitis Pigmentosa
    Tags
    • gene-checked
    Red MT-ATP6 in Albinism or congenital nystagmus


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

    		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 1.40

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Literature
    Tags
    • gene-checked
    Red MT-ATP6 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
    Phenotypes
    • Neuropathy, ataxia, and retinitis pigmentosa, 551500
    Green MT-ATP6 in Optic neuropathy


    Level 2: Ophthalmology
    Version 5.48
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • London North GLH
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Leber optic atrophy
    • 535000
    • neurogenic weakness, ataxia, and retinitis pigmentosa
    • retinopathy
    Tags
    • gene-checked
    Green MT-ATP6 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
    • Can resemble skeletal muscle channelopathy
    Tags
    • gene-checked
    Red MT-ATP6 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 1.642

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Tags
    • gene-checked
    Green MT-ATP6 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
    Tags
    • gene-checked
    Green MT-ATP6 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review
    Tags
    • gene-checked
    Red MT-ATP6 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 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
    • Emory Genetics Laboratory
    • UKGTN
    Tags
    • gene-checked
    Green MT-ATP6 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		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
    Tags
    • gene-checked
    Green MT-ATP6 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • NARP syndrome, MONDO:0010794
    Tags
    • gene-checked
    Red MT-ATP6 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Green MT-ATP6 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert Review
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Tags
    • gene-checked
    No list MT-ATP6 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
    Phenotypes
    • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
    Tags
    • curated_removed
    Green MT-ATP6 in NARP syndrome or maternally inherited Leigh syndrome


    Level 2: Mitochondrial
    Version 2.2
    Latest signed off version: v2.0 (7 Aug 2024)

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Green
    Tags
    • gene-checked