Hereditary Neuropathy_CMT - isolated
Gene: MARSEnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 10 panels
3 reviews
Sangavi Sivagnanasundram (Melbourne Health)
MARS1 - new gene name
Classified as LIMITED to no evidence by ClinGen. Recommended not to test gene in everyday clinical setting.
https://search.clinicalgenome.org/CCID:005337Created: 9 Apr 2024, 12:28 a.m. | Last Modified: 9 Apr 2024, 12:28 a.m.
Panel Version: 1.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease MONDO:0015626
Publications
- https://search.clinicalgenome.org/CCID:005337
Eleanor Williams (Genomics England)
PMID: 33909043 - Botta et al 2021 - using WES/WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified a homozygous variant in one Italian patient (c.1201G > A (p.Val401Me) that is very rare (gnomAD frequency 0.00001414). Functional studies suggest that the variant affects gene product stability.Created: 7 Oct 2021, 12:11 p.m. | Last Modified: 7 Oct 2021, 12:11 p.m.
Panel Version: 0.9347
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
trichothiodystrophy, MONDO:0018053
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.Created: 1 Apr 2020, 9:05 a.m. | Last Modified: 1 Apr 2020, 9:05 a.m.
Panel Version: 0.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- HMSN
- Charcot-Marie-Tooth disease, axonal, type 2U, 616280
- OMIM
- 156560
- Clinvar variants
- Variants in MARS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Chromosome Breakage Disorders
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Liver Failure_Paediatric
- Mendeliome
- Interstitial Lung Disease
- Hereditary Spastic Paraplegia - paediatric
- Hereditary Neuropathy_CMT - isolated
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mars has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mars has been classified as Amber List (Moderate Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MARS were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mars has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MARS was added gene: MARS was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MARS were set to HMSN; Charcot-Marie-Tooth disease, axonal, type 2U, 616280