Hereditary neuropathy
Gene: MARS
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
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.
Variants in this GENE are reported as part of current diagnostic practice
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.
Single familyCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Single familyCreated: 8 Dec 2015, 3:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag new-gene-name tag was added to gene: MARS.
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 for gene: MARS Publications for gene MARS were changed from to 23729695; 29655802
Source South West GLH was added to MARS.
Source NHS GMS was added to MARS.
Source London North GLH was added to MARS.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
MARS was created by MReilly-925
MARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review