Hereditary neuropathy
Gene: GARS
Multiple C5s in Bristol. In the process of publishing a GARS case series paper. Multiple entries. Recent paper PMID:29648643 includes variant identifed in BristolCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1Created: 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.
Variants in this GENE are reported as part of current diagnostic practice
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.
no loss of function variant has been reported to dateCreated: 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
Heterozygous KO mice have no phenotypeCreated: 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
Heterozygous KO mice have no phenotypeCreated: 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
Tag new-gene-name tag was added to gene: GARS.
Added phenotypes Neuropathy, distal hereditary motor, type V, 600794; Charcot Marie Tooth disease, type 2D, 601472 for gene: GARS Publications for gene GARS were changed from to 29648643
Source South West GLH was added to GARS.
Source NHS GMS was added to GARS.
Source London North GLH was added to GARS. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene GARS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
GARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory