1. Genes and Genomic Entities
  2. ATP5O

ATP5O

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit
OMIM: 600828, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ATP5O in Mitochondrial disorder with complex V deficiency


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Tags
  • new-gene-name
Green ATP5O 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
    Tags
    • new-gene-name
    Green ATP5O in Possible mitochondrial disorder, nuclear genes


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
    Tags
    • new-gene-name
    Green ATP5O in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
    Tags
    • new-gene-name
    Green ATP5O in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
    Tags
    • new-gene-name
    Green ATP5O 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
    Tags
    • new-gene-name