This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Phenotype apears to include ataxia/dystonia. >3 families reported.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- L-2-hydroxyglutaric aciduria, 236792
- OMIM
- 609584
- Clinvar variants
- Variants in L2HGDH
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Adult onset leukodystrophy
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- Intellectual disability
- Inherited white matter disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 2
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene L2HGDH was changed from to Unknown Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
2 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to L2HGDH. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: L2HGDH was added gene: L2HGDH was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: L2HGDH was set to