PanelApp
  1. Genes and Genomic Entities
  2. MT-ATP6

MT-ATP6

mitochondrially encoded ATP synthase 6
OMIM: 516060, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red MT-ATP6 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Leigh syndrome, MONDO:0009723

    Green MT-ATP6 in Mendeliome


    Version 1.3795

    		1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
    Tags
    • mtDNA

    Green MT-ATP6 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1275

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
    Tags
    • mtDNA

    Green MT-ATP6 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.304

    		1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
    Tags
    • mtDNA

    Green MT-ATP6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.507

    		1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
    Tags
    • mtDNA

    Green MT-ATP6 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.160

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
    Tags
    • mtDNA

    Green MT-ATP6 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 0.225

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
    Tags
    • mtDNA