ACAD8

acyl-CoA dehydrogenase family member 8
OMIM: 604773, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ACAD8 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Isobutyryl-CoA dehydrogenase deficiency MIM#611283

Green ACAD8 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Isobutyryl-CoA dehydrogenase deficiency

Green ACAD8 in Aminoacidopathy


Level 2: Metabolic disorders
Version 1.128

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • isobutyryl-CoA dehydrogenase deficiency MONDO:0012648

    Red ACAD8 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Isobutyryl-CoA dehydrogenase deficiency MIM#611283