Childhood onset hereditary spastic paraplegia
Gene: MARSEnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 9 panels
2 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: 1.178
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- Expert list
- 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
- Adult onset neurodegenerative disorder
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Hereditary neuropathy or pain disorder
- Pulmonary fibrosis familial
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- 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)
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.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set publications
Sarah Leigh (Genomics England Curator)gene: MARS was added gene: MARS was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MARS were set to Novarino et al. (2014)