1. Genes and Genomic Entities
  2. ACAT2

ACAT2

acetyl-CoA acetyltransferase 2
OMIM: 100678, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red ACAT2 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • ?ACAT2 deficiency, OMIM:614055
    • Increased serum lactate and pyruvate
    • High levels of ketones
    • Low levels of cytosolic acetoacetyl-CoA thiolase
    • Hypotonia
    • Severe developmental delay
    Red ACAT2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • ?ACAT2 deficiency, OMIM:614055
    • Increased serum lactate and pyruvate
    • High levels of ketones
    • Low levels of cytosolic acetoacetyl-CoA thiolase
    • Hypotonia
    • Severe developmental delay