CPT1B

carnitine palmitoyltransferase 1B
OMIM: 601987, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red CPT1B in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.4
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review Not set
    Sources
    • UKGTN