ACOX2

acyl-CoA oxidase 2
OMIM: 601641, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ACOX2 in Mendeliome


Version 1.1902

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

Green ACOX2 in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 0.53

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Bile acid synthesis defect, congenital, 6, 617308

    Red ACOX2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

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