ACAD8:Ensemblv90

acyl-CoA dehydrogenase family member 8
OMIM: 604773, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ACAD8 in Mendeliome


Version 1.3802

2 reviews 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

0 reviews 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 1.138

Component of the following Super Panels:

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

    Red ACAD8 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

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

    Green ACAD8 in Additional findings_Paediatric


    Level 2: Screening
    Version 1.0

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

    Green ACAD8 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Literature
    • Expert Review Green
    Phenotypes
    • isobutyryl-CoA dehydrogenase deficiency MONDO:0012648