Inherited white matter disorders

Gene: L2HGDH

Green List (high evidence)

L2HGDH (L-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 15 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, 10:57 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 confirmed DD gene for L-2-HYDROXYGLUTARIC ACIDURIA. There are more than 3 reports with different variants reported in OMIM for families from different ethnicities with L-2-hydroxyglutaric aciduria.
Created: 26 Aug 2016, 10:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
L2-Hydroxyglutaric aciduria

Publications

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792

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)

L2HGDH was added to Inherited white matter disorderspanel. Sources: Literature

26 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

L2HGDH was created by ellenmcdonagh