Hereditary neuropathy or pain disorder
Gene: MARSEnsemblGeneIds (GRCh38): ENSG00000166986
EnsemblGeneIds (GRCh37): ENSG00000166986
OMIM: 156560, Gene2Phenotype
MARS is in 10 panels
7 reviews
Arina Puzriakova (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1Created: 10 May 2022, 3:14 p.m. | Last Modified: 10 May 2022, 3:14 p.m.
Panel Version: 1.101
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to access papers to fully evaluate. PMID: 23729695 - two affected male individuals in one family with mutation, middle unaffected relative with the mutation and has 3 alleles on gnomAD - authors suggest reduced penetrance. PMID: 29655802 - possible functional studies but cannot access paper. Several other papers of exome studies but cannot accessCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: 1.333
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:07 p.m.
Alexander Rossor (UCL Institute of Neurology)
Single familyCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mary Reilly (Institute of Neurology)
Single familyCreated: 8 Dec 2015, 3:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review
- Expert Review Red
- South West GLH
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North 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
-
- Childhood onset hereditary spastic paraplegia
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Hereditary neuropathy or pain disorder
- Childhood interstitial lung disease
- Hereditary spastic paraplegia
- Pulmonary fibrosis familial
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Adult onset leukodystrophy
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: MARS.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MARS was added gene: MARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,South West GLH,Expert Review Red,Expert Review Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MARS were set to 23729695; 29655802 Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280