Possible mitochondrial disorder - nuclear genes
Gene: DARS
DARS (aspartyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000115866
EnsemblGeneIds (GRCh37): ENSG00000115866
OMIM: 603084, Gene2Phenotype
DARS is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000115866
EnsemblGeneIds (GRCh37): ENSG00000115866
OMIM: 603084, Gene2Phenotype
DARS is in 15 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1Created: 6 Sep 2019, 11:38 a.m. | Last Modified: 6 Sep 2019, 11:38 a.m.
Panel Version: 1.2
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
- Tags
- OMIM
- 603084
- Clinvar variants
- Variants in DARS
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
6 Sep 2019, Gel status: 1
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: DARS.
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DARS was added gene: DARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281