ATP5PO

ATP synthase peripheral stalk subunit OSCP
OMIM: 600828, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ATP5PO in Mendeliome


Version 2.55

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Tags
  • new gene name

Green ATP5PO in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.6

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
    Tags
    • new gene name

    Green ATP5PO in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 2.0

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
    Tags
    • new gene name

    Green ATP5PO in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
    Tags
    • new gene name

    Green ATP5PO in Fetal anomalies


    Version 2.2

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
    Tags
    • new gene name