Inherited white matter disorders
Gene: DARSEnsemblGeneIds (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 DARS1Created: 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)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281
- Tags
- OMIM
- 603084
- Clinvar variants
- Variants in DARS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: DARS.
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
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for DARS were set to 25655951; 23643384
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity 615281
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)DARS was added to Inherited white matter disorderspanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services
Set publications
Sarah Leigh (Genomics England Curator)Publications for DARS were set to 25655951
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for DARS was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DARS was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)DARS was created by ellenmcdonagh