Mitochondrial disease
Gene: DARS2
DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000117593
EnsemblGeneIds (GRCh37): ENSG00000117593
OMIM: 610956, Gene2Phenotype
DARS2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000117593
EnsemblGeneIds (GRCh37): ENSG00000117593
OMIM: 610956, Gene2Phenotype
DARS2 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy (Scheper et al., 2007). Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline.Created: 5 May 2022, 10:20 a.m. | Last Modified: 5 May 2022, 10:21 a.m.
Panel Version: 0.13843
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 610956
- Clinvar variants
- Variants in DARS2
- Penetrance
- None
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 1000+
- Hereditary Neuropathy - complex
- Mendeliome
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DARS2 was added gene: DARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: DARS2 was set to Unknown