Inherited white matter disorders
Gene: L2HGDHComment 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
Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
L2HGDH was added to Inherited white matter disorderspanel. Sources: Literature
L2HGDH was created by ellenmcdonagh