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  3. D2HGDH
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Mitochondrial disease

Gene: D2HGDH

Green List (high evidence)
D2HGDH (D-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000180902
EnsemblGeneIds (GRCh37): ENSG00000180902
OMIM: 609186, Gene2Phenotype
D2HGDH is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 3 families reported.
Created: 5 May 2022, 10:16 a.m. | Last Modified: 5 May 2022, 10:16 a.m.
Panel Version: 0.13839

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-2-hydroxyglutaric aciduria MIM#600721

Publications

Created: 5 May 2022, 10:16 a.m.
Last Modified: 5 May 2022, 10:16 a.m.
Panel version: Imported from Mendeliome panel version 0.13839

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Enzyme catalyses oxidation of D-2HG, which is coupled to the mitochondrial electron transport chain. >3 cases reported.
Sources: Literature, NHS GMS
Created: 21 Mar 2020, 9:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-2-hydroxyglutaric aciduria MIM#600721

Publications

Created: 21 Mar 2020, 9:56 a.m.

Panel version: 0.287

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • D-2-hydroxyglutaric aciduria MIM#600721
OMIM
609186
Clinvar variants
Variants in D2HGDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: d2hgdh has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: d2hgdh has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: D2HGDH was added gene: D2HGDH was added to Mitochondrial disease. Sources: Literature,NHS GMS Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 25778941; 31349060; 15609246; 20020533 Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria MIM#600721 Review for gene: D2HGDH was set to GREEN