Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
- OMIM
- 610956
- Clinvar variants
- Variants in DARS2
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Hereditary ataxia, adult onset
- DDG2P
- Mitochondrial disorders
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
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
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: DARS2 was added gene: DARS2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal