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Inborn errors of metabolism

Gene: DARS

Green List (high evidence)

DARS (aspartyl-tRNA synthetase)
EnsemblGeneIds (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 DARS1
Created: 6 Sep 2019, 11:38 a.m. | Last Modified: 6 Sep 2019, 11:38 a.m.
Panel Version: 1.262

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 (Genomics England Curator)

Red List (low evidence)

No link to mitochondrial disease & phenotype does not seem particularly similar to a mitochondrial condition
Created: 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 List (low evidence)

Red - not considered a primary mitochondrial disorder; DARS encodes the cytoplasmic aspartyl-tRNA synthetase
Created: 11 Jun 2019, 3:59 p.m.

Phenotypes
Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281

Zornitza Stark (Australian Genomics)

I don't know

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)

Green List (high evidence)

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.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity for gene: DARS

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DARS was added gene: DARS was added to Inborn errors of metabolism. Sources: Expert Review Green 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