ATP5MC3

ATP synthase membrane subunit c locus 3
OMIM: 602736, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ATP5MC3 in Mendeliome


Version 2.10

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Tags
  • new gene name

Red ATP5MC3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Dystonia, early-onset, and/or spastic paraplegia MIM#619681
    Tags
    • new gene name

    Green ATP5MC3 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 2.0

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
    Tags
    • new gene name

    Green ATP5MC3 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681
    Tags
    • new gene name

    Green ATP5MC3 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    • Literature
    Phenotypes
    • Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
    Tags
    • new gene name