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Fetal anomalies

Gene: D2HGDH

Red List (low evidence)
D2HGDH (D-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000180902
EnsemblGeneIds (GRCh37): ENSG00000180902
OMIM: 609186, Gene2Phenotype
D2HGDH is in 11 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Esther Kinning (NHS Greater Glasgow and Clyde)

Red List (low evidence)

epilepsy, cardiomyopathy, one report of post-natal VM, can also cause adult onset dementia, green on 6 panels. Red - no evidence of prenatal phenotype.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
D-2-hydroxyglutaric aciduria, OMIM:600721

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: D2HGDH was added gene: D2HGDH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, OMIM:600721