PanelApp
  1. Genes and Genomic Entities
  2. ATP5G3

ATP5G3

ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)
OMIM: 602736, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ATP5G3 in Mendeliome


Version 1.3512

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 ATP5G3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

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

    Green ATP5G3 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

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