CRAT

carnitine O-acetyltransferase
OMIM: 600184, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber CRAT in Mitochondrial disorders


Level 2: Mitochondrial
Version 9.41
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Neurodegeneration with brain iron accumulation 8, OMIM:617917
    • Leigh syndrome, MONDO:0009723