CRAT

carnitine O-acetyltransferase
OMIM: 600184, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CRAT in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 8, MIM# 617917
  • Leigh syndrome

Amber CRAT in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 8, MIM# 617917
  • Leigh syndrome

Amber CRAT in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodegeneration with brain iron accumulation 8, MIM# 617917
  • Leigh syndrome