Ataxia and cerebellar anomalies - narrow panel
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

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

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

Ataxia and cerebellar anomalies - narrow panel Gene: DARS2