ATP5F1B

ATP synthase F1 subunit beta
OMIM: 102910, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ATP5F1B in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dystonia 38, susceptibility to, MIM# 621502
  • Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085

Amber ATP5F1B in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dystonia 38, susceptibility to, MIM# 621502
  • Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085

Amber ATP5F1B in Dystonia and Chorea


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Dystonia 38, susceptibility to, MIM# 621502