Adult onset hereditary spastic paraplegia
Gene: MARSEnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 10 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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)
Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1Created: 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)
see current PA review statusCreated: 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
- OMIM
- 156560
- Clinvar variants
- Variants in MARS
- Penetrance
- None
- Publications
-
- Novarino et al. (2014)
- 24482476
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Hereditary neuropathy or pain disorder
- Childhood interstitial lung disease
- Hereditary spastic paraplegia
- Pulmonary fibrosis familial
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Adult onset leukodystrophy
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: MARS.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: MARS were set to Novarino et al. (2014)
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: MARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MARS.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to MARS.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene MARS were changed from to Novarino et al. (2014)
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