Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: D2HGDH

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412

History Filter Activity

11 Feb 2021, Gel status: 3

Clear Sources

Eleanor Williams (Genomics England Curator)

Source: Expert Review Red was removed from gene: D2HGDH

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to D2HGDH. Source London North GLH was added to D2HGDH.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: D2HGDH was added gene: D2HGDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: D2HGDH were set to 27604308 Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria