ATP5F1D

ATP synthase F1 subunit delta
OMIM: 603150, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ATP5F1D in Mendeliome


Version 2.588

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

Amber ATP5F1D in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.9

Component of the following Super Panels:

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

    Red ATP5F1D in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.359

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