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 3.3
Latest signed off version: v3.0 (30 Apr 2025)

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 8.98
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    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 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • 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 Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    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