ACADL

acyl-CoA dehydrogenase long chain
OMIM: 609576, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red ACADL in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 1.15

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Long chain acyl-CoA dehydrogenase deficiency MONDO:0020531
    Tags
    • disputed

    Red ACADL in Mendeliome


    Version 1.3802

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Long chain acyl-CoA dehydrogenase deficiency MONDO:0020531
    Tags
    • disputed

    Red ACADL in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Sudden infant death

    Red ACADL in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Sudden infant death