1. Genes and Genomic Entities
  2. ACADSB

ACADSB

acyl-CoA dehydrogenase short/branched chain
OMIM: 600301, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ACADSB in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 2-Methylbutyric aciduria (Organic acidurias)
  • 2-methylbutyrylglycinuria 610006
Green ACADSB in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 2-methylbutyrylglycinuria 610006
    • 2-Methylbutyric aciduria (Organic acidurias)
    Red ACADSB in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.1
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • 2-methylbutyrylglycinuria, 610006
    Amber ACADSB in Intellectual disability


    Level 2: Developmental disorders
    Version 10.1
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • 2-methylbutyrylglycinuria, 610006
    Red ACADSB in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.1
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • 2-methylbutyrylglycinuria, 610006
    Red ACADSB in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 8.1
    Latest signed off version: v8.0 (6 May 2026)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH