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 1.8

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.43
Latest signed off version: v1.34 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Rhabdomyolysis
    • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450

    Green ACADM in Neuromuscular disorders


    Version 5.164
    Latest signed off version: v5.43 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of
    • Rhabdomyolysis

    No list ACADM in Sudden death in young people

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 1.15

    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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.98
    Latest signed off version: v3.2 (13 Feb 2020)

    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 1.457

    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 Inborn errors of metabolism


    Version 2.131
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.41
    Latest signed off version: v1.17 (11 Nov 2020)

    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


    Version 1.648
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1068
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY

    Red ACADM in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.34
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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 or chorea or related movement disorder


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

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

    Green ACADM in Severe Paediatric Disorders


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450