1. Genes and Genomic Entities
  2. L2HGDH

L2HGDH

L-2-hydroxyglutarate dehydrogenase
OMIM: 609584, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Red L2HGDH in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Green L2HGDH in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.18
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • L-2-hydroxyglutaric aciduria, 236792
    Green L2HGDH in Adult onset leukodystrophy


    Level 2: Neurology
    Version 6.10
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • L-2-hydroxyglutaric aciduria, 236792
    Green L2HGDH in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • L-2-hydroxyglutaric aciduria, 236792
    Red L2HGDH in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.19
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Unknown
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Dystonia
    Green L2HGDH in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    Phenotypes
    • L-2-hydroxyglutaric aciduria 236792
    Green L2HGDH in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.100
    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
    • L-2-hydroxyglutaric aciduria, 236792
    Red L2HGDH in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • L-2-hydroxyglutaric aciduria, 236792
    Green L2HGDH in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.158
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • L-2-HYDROXYGLUTARIC ACIDURIA
    Green L2HGDH in DDG2P


    Version 6.427
    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
    • L-2-HYDROXYGLUTARIC ACIDURIA 236792
    Green L2HGDH in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    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
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • L-2-hydroxyglutaric aciduria, 236792
    • L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA)
    Red L2HGDH in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    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
    • L-2-hydroxyglutaric aciduria, 236792
    Red L2HGDH in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • L-2-hydroxyglutaric aciduria, 236792
    • Dystonia
    Green L2HGDH in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • South West GLH
    • London North GLH
    Phenotypes
    • L-2-hydroxyglutaric aciduria, OMIM:236792