Adult onset neurodegenerative disorder
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, 2:29 p.m. | Last Modified: 6 Sep 2019, 2:29 p.m.
Panel Version: 1.102
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Low level evidence for associated with Charcot-Marie-Tooth disease phenotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2U; 616280
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- Tags
- OMIM
- 156560
- Clinvar variants
- Variants in MARS
- Penetrance
- None
- Publications
-
- Novarino et al. (2014)
- Panels with this gene
-
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Pulmonary fibrosis familial
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Adult onset leukodystrophy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: MARS.
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: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set publications
Rebecca Foulger (Genomics England curator)gene: MARS was added gene: MARS was added to Neurodegenerative disorders - adult onset. Sources: 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)