Childhood 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, 7:33 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

Amber gene with Green 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, 4:50 p.m.

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:54 p.m.

Amber rating on Hereditary spastic paraplegia panel 1.198

cnv gene-duplication tagged

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 (2–59). 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
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Green review.

helen kingston (CMFT NHS Foundation Trust, Manchester) 5 Nov 2017 Submitted Green review.

Created: 2 May 2019, 4:23 p.m.

Green List (high evidence)

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

Created: 28 Apr 2019, 4:16 p.m.

Phenotypes
Spastic ataxia 3, autosomal recessive, 611390