Adult onset leukodystrophy
Gene: MARSEnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 9 panels
8 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.Created: 4 May 2024, 5:32 p.m. | Last Modified: 4 May 2024, 5:48 p.m.
Panel Version: 4.3
Eleanor Williams (Genomics England Curator)
Added the Q4_21_rating tag to make it clear that this gene's rating is being assessed.Created: 6 Oct 2022, 1:45 p.m. | Last Modified: 6 Oct 2022, 1:45 p.m.
Panel Version: 1.47
Sarah Leigh (Genomics England Curator)
As the recommendation is to demote MARS from Green to Red on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 6:09 p.m. | Last Modified: 15 Mar 2022, 6:09 p.m.
Panel Version: 1.40
Zornitza Stark (Australian Genomics)
Cannot find evidence that white matter changes are a feature of this condition.Created: 21 Jun 2020, 6:30 a.m. | Last Modified: 21 Jun 2020, 6:30 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2U MIM#616280
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1Created: 6 Sep 2019, 2:31 p.m. | Last Modified: 6 Sep 2019, 2:31 p.m.
Panel Version: 0.15
Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Ian Berry (Leeds Genetics Laboratory)
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- Yorkshire and North East GLH
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal, type 2U, 616280
- Tags
- OMIM
- 156560
- Clinvar variants
- Variants in MARS
- Penetrance
- None
- Publications
- 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 leukodystrophy
- Adult onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag to_be_confirmed_NHSE was removed from gene: MARS.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Amber was added to MARS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_21_expert_review was removed from gene: MARS. Tag Q4_21_rating was removed from gene: MARS. Tag Q4_21_phenotype was removed from gene: MARS.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_rating tag was added to gene: MARS.
Added Tag
Sarah Leigh (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: MARS.
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_expert_review tag was added to gene: MARS. Tag Q4_21_phenotype tag was added to gene: MARS.
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: MARS.
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)Mode of inheritance for gene MARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 for gene: MARS
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene MARS were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to MARS. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MARS.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: MARS was added gene: MARS was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: MARS was set to