Inherited white matter disorders
Gene: DARS2EnsemblGeneIds (GRCh38): ENSG00000117593
EnsemblGeneIds (GRCh37): ENSG00000117593
OMIM: 610956, Gene2Phenotype
DARS2 is in 17 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. It is a "Both DD and IF" (developmental disorder and incidental disorder) DD gene for Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL), more than 3 cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL). Green gene in the Mitochondrial panel version 1.7, Hereditary ataxia panel version 1.7, and ID panel version 1.2.
Created: 15 Aug 2016, 9:29 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_626
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
- OMIM
- 610956
- Clinvar variants
- Variants in DARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL);General Leukodystrophy & Mitochondrial Leukoencephalopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DARS2 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Ian Berry (Leeds Genetics Laboratory)DARS2 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)DARS2 was created by [email protected]