ATP5G3

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ATP5G3 in Mitochondrial disorder with complex V deficiency


Level 2: Mitochondrial
Version 3.7
Latest signed off version: v3.6 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Tags
  • new-gene-name
Green ATP5G3 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
    Tags
    • new-gene-name
    Green ATP5G3 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.23
    Latest signed off version: v5.17 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
    Tags
    • new-gene-name
    Green ATP5G3 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
    Tags
    • new-gene-name
    Green ATP5G3 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

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