Adult onset hereditary spastic paraplegia

Gene: DARS

Green List (high evidence)

Childhood and adult onset. Spasticity usually part of wider syndrome but cases exist as initial presentation.

Created: 9 May 2019, 11:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 23643384
• 25527264

I don't know

see current PA review status

Created: 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

• 23643384
• 25527264

I don't know

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: 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.

Green List (high evidence)

10 patients from 7 unrelated families of various origins with hypomyelination with brainstem and spinal cord involvement and spasticity

Created: 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