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 1.642

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


Level 2: Metabolic
Version 8.91
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
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740
    • oxoglutaricaciduria, MONDO:0008759
    Green OGDH in DDG2P


    Version 6.424
    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
    • OGDH-related neurodevelopmental disorder
    Amber OGDH in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    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