Hereditary neuropathy

Gene: MARS

I don't know

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 access

Created: 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

• 23729695
• 29655802

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Added new-gene-name tag, new approved HGNC gene symbol for MARS is MARS1

Created: 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.

Red List (low evidence)

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.

Red List (low evidence)

Single family

Created: 9 Dec 2015, 8:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Red List (low evidence)

Single family

Created: 8 Dec 2015, 3:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted