Hereditary spastic paraplegia - adult onset

Gene: MARS

Red List (low evidence)

MARS (methionyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 7 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Single family, childhood onset. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 12:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1
Created: 6 Sep 2019, 2:29 p.m. | Last Modified: 6 Sep 2019, 2:29 p.m.
Panel Version: 0.155
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.

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

see current PA review status
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Novarino et al. (2014)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • South West GLH
Tags
new-gene-name
OMIM
156560
Clinvar variants
Variants in MARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: MARS.

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MARS were set to Novarino et al. (2014)

13 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: MARS was changed from to BIALLELIC, autosomal or pseudoautosomal

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MARS.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to MARS.

27 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MARS were changed from to Novarino et al. (2014)

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MARS was added gene: MARS was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: MARS was set to