Hereditary spastic paraplegia

Gene: MARS2

Amber List (moderate evidence)

MARS2 (methionyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 13 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Chris Buxton (North Bristol NHS Trust)

Green List (high evidence)

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

Phenotypes
Spastic Ataxia; Leukoencephalopathy

Publications

helen kingston (CMFT NHS Foundation Trust, Manchester)

Green List (high evidence)

History Filter Activity

2 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mars2 has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MARS2 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen