ATP5F1D

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ATP5F1D in Mendeliome


Version 2.0

1 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 ATP5F1D in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 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 ATP5F1D in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

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