ACADVL

acyl-CoA dehydrogenase very long chain
OMIM: 609575, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green ACADVL in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • VLCAD deficiency 201475

Green ACADVL 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
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • VLCAD deficiency 201475

    Green ACADVL 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
    • VLCAD deficiency

    Red ACADVL in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.20
    Latest signed off version: v2.11 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM

    Red ACADVL 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 ACADVL in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.18
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • VLCAD deficiency, 201475
    • metabolic myopathy
    • rhabdomyolsis

    Green ACADVL 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
    • Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
    • VLCAD deficiency

    Green ACADVL 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
    • VLCAD deficiency
    • Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)

    Red ACADVL 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
    • VLCAD deficiency, 201475

    Green ACADVL in Fetal anomalies


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY

    Green ACADVL 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
    • VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475

    Amber ACADVL 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 Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • VLCAD deficiency, 201475

    Red ACADVL 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
    • VLCAD deficiency, 201475

    Green ACADVL in Cardiomyopathies - including childhood onset


    Version 1.39
    Latest signed off version: v1.4 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • MetBioNet
    • Expert Review Green
    • Expert Review Green
    • MetBioNet
    • South West GLH
    Phenotypes
    • VLCAD deficiency
    • Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
    • syndromic HCM
    • Liver disease, hepatomegaly, hypoketotic hypoglycaemia
    • Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form)
    • DCM, mixed
    • HCM

    Red ACADVL 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 ACADVL in Severe Paediatric Disorders


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • VLCAD deficiency, 201475