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D2HGDH

D-2-hydroxyglutarate dehydrogenase
OMIM: 609186, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green D2HGDH in White matter disorders and cerebral calcification - childhood onset Level 2: Neurology Version 8.7 Latest signed off version: v8.6 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes L2-Hydroxyglutaric aciduria
Green D2HGDH 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 L2-Hydroxyglutaric aciduria
Green D2HGDH 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 UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature Phenotypes D-2-hydroxyglutaric aciduria 600721
Green D2HGDH 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 NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria
Red D2HGDH in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.18 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes D-2-hydroxyglutaric aciduria, 600721
Red D2HGDH in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.1 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes D-2-hydroxyglutaric aciduria, OMIM:600721
Red D2HGDH 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 Red Phenotypes D-2-HYDROXYGLUTARIC ACIDURIA 1 600721
Green D2HGDH in Early onset or syndromic epilepsy Level 2: Neurology Version 9.57 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria, 600721 generalized tonic-clonic seizures absence seizures tonic seizures tonic-clonic seizures myoclonic seizures
Green D2HGDH in Intellectual disability Level 2: Developmental disorders Version 11.1 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 Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes D-2-hydroxyglutaric aciduria, 600721
Red D2HGDH 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 Red NHS GMS Phenotypes D-2-hydroxyglutaric aciduria, 600721
Red D2HGDH 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	Not set	Sources Expert Review Red London North GLH