1. Genes and Genomic Entities
  2. ACOX2

ACOX2

acyl-CoA oxidase 2
OMIM: 601641, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber ACOX2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • ClinGen
    • Other
    Phenotypes
    • Bile acid synthesis defect, congenital, 6, OMIM:617308
    Tags
    • Q3_25_promote_green
    Red ACOX2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Bile acid synthesis defect, congenital, 6 - 617308