Adult onset hereditary spastic paraplegia
Gene: DARS
see current PA review statusCreated: 27 Apr 2019, 4:17 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
Publications
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: 0.155
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 27 Apr 2019, 4:30 p.m.
10 patients from 7 unrelated families of various origins with hypomyelination with brainstem and spinal cord involvement and spasticityCreated: 25 Apr 2019, 1:22 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
Tag new-gene-name tag was added to gene: DARS.
Source Yorkshire and North East GLH was added to DARS.
Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS Publications for gene DARS were changed from to 23643384; 25527264
Source South West GLH was added to DARS.
Source Expert Review Green was added to DARS. Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to DARS.
gene: DARS was added gene: DARS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: DARS was set to