CRAT

carnitine O-acetyltransferase
OMIM: 600184, Gene2Phenotype

1 panel

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

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0 (22 Mar 2023)

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