Hereditary neuropathy or pain disorder
Gene: MARSAdded 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
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.
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