Mitochondrial disorders
Gene: DARSEnsemblGeneIds (GRCh38): ENSG00000115866
EnsemblGeneIds (GRCh37): ENSG00000115866
OMIM: 603084, Gene2Phenotype
DARS is in 15 panels
7 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1Created: 6 Sep 2019, 11:37 a.m. | Last Modified: 6 Sep 2019, 11:37 a.m.
Panel Version: 1.485
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.Created: 19 Jun 2019, 12:37 p.m.
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
No link to mitochondrial disease & phenotype does not seem particularly similar to a mitochondrial conditionCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Carl Fratter (Oxford University Hospitals NHS Trust)
Red - not considered a primary mitochondrial disorder; DARS encodes the cytoplasmic aspartyl-tRNA synthetaseCreated: 11 Jun 2019, 3:59 p.m.
Phenotypes
Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Zornitza Stark (Australian Genomics)
Definitely a green gene. DARS2 is a mitochondrial tRNA synthese, but what is the link between DARS and mitochondria?Created: 29 Aug 2018, 5:46 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Sourced from OMIM and G2P.Created: 26 Feb 2016, 5:31 p.m.
Comment on list classification: Promoted from red to green due to expert review, is also rated green on the intellectual disability panel, and is a confirmed DD gene.Created: 26 Feb 2016, 5:30 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity
- Tags
- OMIM
- 603084
- Clinvar variants
- Variants in DARS
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Intellectual disability
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: DARS.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dars has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DARS was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DARS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert