Hereditary neuropathy

Gene: GARS

Green List (high evidence)

Multiple C5s in Bristol. In the process of publishing a GARS case series paper. Multiple entries. Recent paper PMID:29648643 includes variant identifed in Bristol

Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Charcot Marie Tooth disease, type 2D, 601472; Neuropathy, distal hereditary motor, type V, 600794

Publications

• 29648643

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 GARS is GARS1

Created: 6 Sep 2019, 1:46 p.m. | Last Modified: 6 Sep 2019, 1:46 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.

Green List (high evidence)

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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, 1:04 p.m.

Green List (high evidence)

no loss of function variant has been reported to date

Created: 9 Dec 2015, 4:46 p.m.

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

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

Green List (high evidence)

Heterozygous KO mice have no phenotype

Created: 9 Dec 2015, 8:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

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

Green List (high evidence)

Heterozygous KO mice have no phenotype

Created: 8 Dec 2015, 3:04 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

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