Hereditary spastic paraplegia - adult onsetGene: MARS2
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
Variants in this GENE are reported as part of current diagnostic practice
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.
Spastic ataxia 3, autosomal recessive
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.
23 French Canadian individuals from 17 families-ataxic gait, spasticity, and hyperreflexia. In sheffield HSP panel
Created: 25 Apr 2019, 1:22 p.m.
Spastic ataxia 3, autosomal recessive, 611390
Source Expert Review Amber was added to MARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to MARS2.
Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2 Publications for gene MARS2 were changed from to Bayat (2012), 22448145
Source South West GLH was added to MARS2.
Source Expert Review Green was added to MARS2. Added phenotypes Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to MARS2.
gene: MARS2 was added gene: MARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: MARS2 was set to