Genes in panel

Neurodegenerative disorders - adult onset

Gene: DARS

Red List (low evidence)

DARS (aspartyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000115866
EnsemblGeneIds (GRCh37): ENSG00000115866
OMIM: 603084, Gene2Phenotype
DARS is in 15 panels

6 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Hypomyelination with brainstem and spinal cord involvement and leg spasticity is an autosomal recessive leukoencephalopathy characterized by onset in the first year of life
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Generally childhood onset but adults with spastic/ataxic phenotype report.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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: 1.102
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Anthony Dallosso (Bristol Genetics Laboratory)

Green List (high evidence)

HGMD: multipe reports of Hypomyelination with brain stem and spinal cord involvement and leg spasticity. E.g. 25527264: 2 pts with adult onset (+ ataxia in 1 case) and 1 with infant onset spasticity
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Created: 8 Jan 2019, 1:54 p.m.
Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Created: 20 Dec 2018, 3:12 p.m.
Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel and rated Amber by Chris Buxton.
Created: 20 Dec 2018, 10:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • Expert list
Phenotypes
  • Brain stem and spinal cord Hypomyelination
  • leg spasticity
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
new-gene-name
OMIM
603084
Clinvar variants
Variants in DARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to DARS. Rating Changed from Green List (high evidence) to Red List (low evidence)

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: DARS.

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to DARS.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DARS.

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dars has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to DARS.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DARS.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DARS.

25 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

8 Jan 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DARS were changed from Brain stem and spinal cord Hypomyelination; leg spasticity to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281

8 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dars has been classified as Amber List (Moderate Evidence).

20 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dars has been classified as Red List (Low Evidence).

18 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dars has been removed from the panel.

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: DARS was added gene: DARS was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 23643384; 25527264 Phenotypes for gene: DARS were set to Brain stem and spinal cord Hypomyelination; leg spasticity