Inherited white matter disorders

Gene: DARS2

Green List (high evidence)

DARS2 (aspartyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (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)

Green List (high evidence)

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

History Filter Activity

9 Jan 2019, Gel status: 3

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

6 Oct 2016, Gel status: 4

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.

15 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2016, Gel status: 4

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

15 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DARS2 were set to 25655951

15 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

DARS2 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

DARS2 was created by [email protected]