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 2.49

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

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 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

    Component of the following Super Panels:

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