Inherited white matter disorders

Gene: DARS

Green List (high evidence)

DARS (aspartyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000115866
EnsemblGeneIds (GRCh37): ENSG00000115866
OMIM: 603084, Gene2Phenotype
DARS is in 15 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
Created: 6 Sep 2019, 11:39 a.m. | Last Modified: 6 Sep 2019, 11:39 a.m.
Panel Version: 1.71

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_602

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 6 Jul 2016, 1:13 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)
Created: 6 Jul 2016, 1:12 p.m.

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: DARS.

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.

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DARS were set to 25655951; 23643384

6 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

DARS was added to Inherited white matter disorderspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services

6 Jul 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DARS were set to 25655951

6 Jul 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for DARS was changed to BIALLELIC, autosomal or pseudoautosomal

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DARS was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DARS was created by ellenmcdonagh