Likely inborn error of metabolism - targeted testing not possible
Gene: DARSAdded 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: 1.262
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.
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
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
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.
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.
Source: Expert Review Red was removed from gene: DARS
Tag new-gene-name tag was added to gene: DARS.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity for gene: DARS
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