TEST Undiagnosed metabolic disorders
Gene: DARS2

DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
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
Literature

OMIM

610956

Clinvar variants

Variants in DARS2

Penetrance

None

Publications

27604308

Panels with this gene

Childhood onset dystonia, chorea or related movement disorder
Undiagnosed metabolic disorders
Adult onset neurodegenerative disorder
Intellectual disability
Inherited white matter disorders
Ataxia and cerebellar anomalies - narrow panel
Adult onset leukodystrophy
Mitochondrial disorders
Fetal anomalies
Likely inborn error of metabolism
Hereditary ataxia with onset in adulthood
Possible mitochondrial disorder - nuclear genes
Hereditary neuropathy or pain disorder
Hereditary ataxia
DDG2P
White matter disorders and cerebral calcification - narrow panel
Hereditary neuropathy

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: DARS2 was added gene: DARS2 was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 27604308

TEST Undiagnosed metabolic disorders Gene: DARS2

0 reviews

Details

History Filter Activity

Created, Added New Source, Set mode of inheritance, Set publications

TEST Undiagnosed metabolic disorders
Gene: DARS2