Hereditary spastic paraplegiaGene: MARS2
Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 8:37 a.m.
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
Created: 27 Nov 2018, 10:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic Ataxia; Leukoencephalopathy
Gene: mars2 has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
MARS2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen