OGDH

oxoglutarate dehydrogenase
OMIM: 613022, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green OGDH in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Oxoglutarate dehydrogenase deficiency, MIM# 203740
  • Developmental delay
  • ataxia
  • seizure
  • raised lactate

Green OGDH in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oxoglutarate dehydrogenase deficiency, MIM# 203740
    • Developmental delay
    • ataxia
    • seizure
    • raised lactate

    Green OGDH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oxoglutarate dehydrogenase deficiency, MIM# 203740