Early onset dystonia
Gene: L2HGDH
L2HGDH (L-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 14 panels
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 609584
- Clinvar variants
- Variants in L2HGDH
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- Mitochondrial disorders
- Fetal anomalies
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()L2HGDH was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory