Hereditary spastic paraplegia - childhood onsetGene: MARS2
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
Variants in this GENE are reported as part of current diagnostic practice
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.
23 French Canadian individuals from 17 families-ataxic gait, spasticity, and hyperreflexia. In sheffield HSP panel
Created: 28 Apr 2019, 4:16 p.m.
Spastic ataxia 3, autosomal recessive, 611390
Publications for gene: MARS2 were set to
Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Yorkshire and North East GLH was added to MARS2.
Gene: mars2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MARS2 were changed from Spastic ataxia 3, autosomal recessive to Spastic ataxia 3, autosomal recessive, 611390
Gene: mars2 has been classified as Green List (High Evidence).
Source NHS GMS was added to MARS2.
Source London North GLH was added to MARS2.
Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2
Rebecca Foulger: Comment on list classification
gene: MARS2 was added gene: MARS2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: MARS2 was set to Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive