1. Genes and Genomic Entities
  2. HMGCL

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 1.21

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


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • HMG-CoA lyase deficiency, OMIM:246450
  • 3-hydroxy-3-methylglutaric aciduria, MONDO:0009520
Green HMGCL in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias)
Green HMGCL in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
    • 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 3.106
    Latest signed off version: v3.105 (1 May 2024)

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 6.12
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green HMGCL in Severe Paediatric Disorders


    Version 1.184

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