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OGDH

oxoglutarate dehydrogenase
OMIM: 613022, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red OGDH in Optic neuropathy Level 2: Ophthalmology Version 6.51 Latest signed off version: v6.46 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes peripheral neuropathy, MONDO:0005244 cerebellar ataxia, MONDO:0000437 hereditary optic atrophy, MONDO:0043878
Green OGDH in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	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 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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 8.1 Latest signed off version: v8.0 (12 Aug 2026) 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 Intellectual disability Level 2: Developmental disorders Version 11.17 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Oxoglutarate dehydrogenase deficiency, OMIM:203740 oxoglutaricaciduria, MONDO:0008759 Tags Q3_26_promote_green
Amber OGDH in Mitochondrial disorders Level 2: Mitochondrial Version 10.19 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Oxoglutarate dehydrogenase deficiency, OMIM:203740 oxoglutaricaciduria, MONDO:0008759 Tags Q3_26_expert_review Q3_26_promote_green
Amber OGDH in Hereditary ataxia, adult onset Level 2: Neurology Version 9.10 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes peripheral neuropathy, MONDO:0005244 cerebellar ataxia, MONDO:0000437 hereditary optic atrophy, MONDO:0043878 Tags Q3_26_NHS_review Q3_26_promote_green
Red OGDH in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.31 Latest signed off version: v8.30 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes peripheral neuropathy, MONDO:0005244 cerebellar ataxia, MONDO:0000437 hereditary optic atrophy, MONDO:0043878
Amber OGDH in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Oxoglutarate dehydrogenase deficiency, OMIM:203740 oxoglutaricaciduria, MONDO:0008759 Tags Q3_26_promote_green