Hereditary spastic paraplegia
Gene: MARS2
MARS2 (methionyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000247626
EnsemblGeneIds (GRCh37): ENSG00000247626
OMIM: 609728, Gene2Phenotype
MARS2 is in 13 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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 2019Created: 3 May 2019, 8:37 a.m.
Chris Buxton (North Bristol NHS Trust)
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 ngsCreated: 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)
Details
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic ataxia 3, autosomal recessive
- Tags
- OMIM
- 609728
- Clinvar variants
- Variants in MARS2
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
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