ACADL

acyl-CoA dehydrogenase long chain
OMIM: 609576, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red ACADL 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 Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pulmonary surfactant dysfunction
    Tags
    • disputed

    Red ACADL in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related
    Tags
    • disputed

    Red ACADL in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Red ACADL in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

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