Hereditary ataxia
Gene: DARS2
DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000117593
EnsemblGeneIds (GRCh37): ENSG00000117593
OMIM: 610956, Gene2Phenotype
DARS2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000117593
EnsemblGeneIds (GRCh37): ENSG00000117593
OMIM: 610956, Gene2Phenotype
DARS2 is in 17 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from expert and OMIMCreated: 4 Feb 2016, 2:47 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence in literature. Positive in our cohortCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
- OMIM
- 610956
- Clinvar variants
- Variants in DARS2
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Possible mitochondrial disorder, nuclear genes
- Intellectual disability
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- DDG2P
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Mitochondrial disorders
- Leukodystrophy, adult onset
History Filter Activity
9 Jan 2019, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
10 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DARS2 was added to Hereditary ataxiapanel. Sources: UKGTN