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 2: Neurology
Version 5.14
Latest signed off version: v5.4 (30 Apr 2025)

Component of the following Super Panels:

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