Inherited white matter disorders

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: It is not on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory.
Created: 26 Aug 2016, 10:49 a.m.
On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for L2-Hydroxyglutaric aciduria. It is a possible DD gene for D-2-HYDROXYGLUTARIC ACIDURIA 1. There are more than 3 unrelated cases with different variants reported in OMIM for D-2-hydroxyglutaric aciduria.
Created: 26 Aug 2016, 10:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L2-Hydroxyglutaric aciduria

Publications

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

26 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

D2HGDH was added to Inherited white matter disorderspanel. Sources: Literature

26 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

D2HGDH was created by ellenmcdonagh