1. Genes and Genomic Entities
  2. ACADM

ACADM

acyl-CoA dehydrogenase medium chain
OMIM: 607008, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green ACADM in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
Green ACADM in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 5.14
Latest signed off version: v5.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Rhabdomyolysis
    • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
    No list ACADM in Sudden death in young people

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 1.16

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Literature
    • Emory Genetics Laboratory
    Phenotypes
    • Medium chain acyl-CoA dehydrogenase deficiency
    • MCADD
    • MCAD deficiency-associated sudden death
    • sudden infant death syndrome
    • SIDS
    Tags
    • curated_removed
    Red ACADM in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • Expert list
    Green ACADM in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.642

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
    • Acyl-CoA dehydrogenase, medium chain, deficiency of
    Green ACADM in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    • Acyl-CoA dehydrogenase, medium chain, deficiency of
    • Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
    Red ACADM in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
    Red ACADM in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
    Green ACADM in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450
    Green ACADM in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
    Red ACADM in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
    Red ACADM in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green ACADM in Acute rhabdomyolysis


    Level 2: Neurology
    Version 2.7
    Latest signed off version: v2.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450
    Green ACADM in Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing


    Level 2: Metabolic
    Version 1.2
    Latest signed off version: v1.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450