1. Genes and Genomic Entities
  2. OGDH

OGDH

oxoglutarate dehydrogenase
OMIM: 613022, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green OGDH 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
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740
  • oxoglutaricaciduria, MONDO:0008759
Green OGDH 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
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740
    • oxoglutaricaciduria, MONDO:0008759
    Green OGDH 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
    • OGDH-related neurodevelopmental disorder
    Amber OGDH 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
    • NHS GMS
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740
    • oxoglutaricaciduria, MONDO:0008759