HMGCL

3-hydroxymethyl-3-methylglutaryl-CoA lyase
OMIM: 613898, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green HMGCL in Hyperammonaemia

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory

Green HMGCL in White matter disorders - adult onset


Version 1.16
Latest signed off version: v1.6 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • HMG-CoA lyase deficiency, 246450

Green HMGCL in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.460

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias)

Green HMGCL in Inborn errors of metabolism


Version 2.141
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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias)
    • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
    • HMG-CoA lyase deficiency, 246450
    • HMGCLD

    Red HMGCL in Possible mitochondrial disorder - nuclear genes


    Version 1.46
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Other
    Phenotypes
    • HMG-CoA lyase deficiency, 246450

    Red HMGCL in Fetal anomalies


    Version 1.678
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY

    Green HMGCL in DDG2P


    Version 2.28
    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
    • 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450

    Green HMGCL in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.374
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Other
    • Expert Review Green
    • Expert Review Green
    • Other
    Phenotypes
    • HMG-CoA lyase deficiency, 246450
    • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
    • HMGCLD

    Green HMGCL in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    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
    • HMG-CoA lyase deficiency, 246450
    • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
    • HMGCLD
    • Intellectual disability

    Red HMGCL in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.42
    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
    • Other
    Phenotypes
    • HMG-CoA lyase deficiency, 246450
    • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
    • HMGCLD

    Red HMGCL in Childhood onset dystonia or chorea or related movement disorder


    Version 1.130
    Latest signed off version: v1.58 (6 Oct 2020)

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

    Green HMGCL in Severe Paediatric Disorders


    Version 1.78

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • HMG-CoA lyase deficiency, 246450