Adult onset hereditary spastic paraplegia

Gene: MARS2

Green List (high evidence)

No point mutations only duplications reported associated with spastic ataxia. Adult and childhood onset.

Created: 10 May 2019, 7:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 22448145

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Will include in local HSP panel Bayat (2012, 22448145). Approx 300b deletion /?duplication/rearrangement, Complex genomic MARS2 rearrangements identified in 54 affected French-Canadian cases belonging to 38 families with a mean age of onset of 24.4 (259). Lots of in vivo studies. No HGMD/Pubmed reports of MARS2 rearrangements since this paper, but probably inst being widely tested and if so, large rearrangements aren't particularly amenable to ngs

Created: 27 Apr 2019, 4:17 p.m.

Phenotypes
Spastic ataxia 3, autosomal recessive

Publications

• Bayat (2012), 22448145

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber 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)

23 French Canadian individuals from 17 families-ataxic gait, spasticity, and hyperreflexia. In sheffield HSP panel

Created: 25 Apr 2019, 1:22 p.m.

Phenotypes
Spastic ataxia 3, autosomal recessive, 611390