ATP5O

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

6 panels

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


Version 2.16
Latest signed off version: v2.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Tags
  • new-gene-name
  • Q2_23_promote_green
Green ATP5O in Likely inborn error of metabolism - targeted testing not possible


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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
    Amber ATP5O in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
    Tags
    • new-gene-name
    • Q3_23_NHS_review
    • Q2_23_promote_green
    Green ATP5O in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.14
    Latest signed off version: v5.0 (1 May 2024)

    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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • 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