Mitochondrial disease
Gene: L2HGDH
L2HGDH (L-2-hydroxyglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000087299
EnsemblGeneIds (GRCh37): ENSG00000087299
OMIM: 609584, Gene2Phenotype
L2HGDH is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disorders of mitochondrial metabolite repair
- L-2-hydroxyglutaric aciduria MONDO:0009370
- OMIM
- 609584
- Clinvar variants
- Variants in L2HGDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Callosome
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: L2HGDH was added gene: L2HGDH was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: L2HGDH were set to 29884839; 37995940 Phenotypes for gene: L2HGDH were set to Disorders of mitochondrial metabolite repair; L-2-hydroxyglutaric aciduria MONDO:0009370