ATP5D

ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit
OMIM: 603150, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ATP5D in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
Tags
  • new gene name

Green ATP5D in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
    Tags
    • new gene name

    Green ATP5D in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, 618120