OXCT1

3-oxoacid CoA-transferase 1
OMIM: 601424, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green OXCT1 in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 1.14

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

    Green OXCT1 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

    Green OXCT1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

    Green OXCT1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050
    Tags
    • treatable
    • metabolic