COA7

cytochrome c oxidase assembly factor 7
OMIM: 615623, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green COA7 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.28

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770

    Green COA7 in Mendeliome


    Version 2.305

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387

    Green COA7 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 2.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387

    Green COA7 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.7

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387

    Green COA7 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.7

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770

    Green COA7 in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387

    Green COA7 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.10

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
    • Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy

    Red COA7 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.51

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387