ACADSB

acyl-CoA dehydrogenase short/branched chain
OMIM: 600301, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ACADSB in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 2.0

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Disease associations
    • 2-methylbutyrylglycinuria MIM#610006

    Green ACADSB in Mendeliome


    Version 2.742

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Disease associations
    • 2-methylbutyrylglycinuria MIM#610006

    Green ACADSB in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 2.12

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • NHS GMS
    Disease associations
    • 2-methylbutyrylglycinuria MIM#610006

    Amber ACADSB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.203

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Disease associations
    • 2-methylbutyrylglycinuria, MIM# 610006

    Green ACADSB in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 2.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Disease associations
    • 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392

    Red ACADSB in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.13

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Disease associations
    • 2-methylbutyrylglycinuria MIM#610006