Hereditary spastic paraplegia
Gene: MARSEnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 9 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1Created: 6 Sep 2019, 2:30 p.m. | Last Modified: 6 Sep 2019, 2:30 p.m.
Panel Version: 1.205
helen kingston (CMFT NHS Foundation Trust, Manchester)
emma baple (Genomics England Curator)
Comment when marking as ready: Only one family currently described further evidence requiredCreated: 10 May 2016, 11:44 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Tags
- OMIM
- 156560
- Clinvar variants
- Variants in MARS
- Penetrance
- Complete
- Publications
-
- Novarino et al. (2014)
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Pulmonary fibrosis familial
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood 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.
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MARS was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MARS was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)MARS was added to Hereditary spastic paraplegiapanel. Sources: Expert list