PanelApp
  1. Genes and Genomic Entities
  2. CRAT

CRAT

carnitine O-acetyltransferase
OMIM: 600184, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CRAT in Mendeliome


Version 1.3512

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 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  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 0.594

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