Inherited white matter disorders
Gene: L2HGDHEnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 14 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- L-2-hydroxyglutaric aciduria, 236792
- OMIM
- 609584
- Clinvar variants
- Variants in L2HGDH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: L2HGDH were changed from L2-Hydroxyglutaric aciduria to L-2-hydroxyglutaric aciduria, 236792
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)L2HGDH was added to Inherited white matter disorderspanel. Sources: Literature
Created
Ellen McDonagh (Genomics England Curator)L2HGDH was created by ellenmcdonagh