Hereditary neuropathy
Gene: KARS
Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1Created: 6 Sep 2019, 12:07 p.m. | Last Modified: 6 Sep 2019, 12:07 p.m.
Panel Version: 1.333
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.
Bristol - no (likely)pathogenic variants out of approx.1900 patients tested. Other aminoacyl-tRNA synthetases are associated with CMT (GARS, AARS) but for this gene cannot reach PanelApp criteria for inclusion. PMID: 20920668 - Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy - some functional evidence to support, isolated cases with no segregation. PMID: 25476837 - suggests one of the variants in the earlier paper is actually stable and PMID: 23768514Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916; Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant)
Publications
Variants in this GENE are reported as part of current diagnostic practice
A single patient reported with two variants. Not confirmed to be in trans as patient adopted.Created: 21 Dec 2018, 4:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CMT
Publications
Comment on list classification: Demoted from green to red due to reviewer's comments.Created: 3 May 2016, 4:18 p.m.
Remoce from panel. Poor evidence, only ever reported in a single case.Created: 9 Dec 2015, 8:48 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Remoce from panel. Poor evidence, only ever reported in a single case.Created: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag new-gene-name tag was added to gene: KARS.
Added phenotypes Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot Marie Tooth disease, recessive intermediate, B, 613641 for gene: KARS Publications for gene KARS were changed from to 23768514; 25476837; 20920668
Source NHS GMS was added to KARS.
Source South West GLH was added to KARS.
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene KARS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KARS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KARS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KARS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene KARS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
Model of inheritance for gene KARS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
Model of inheritance for gene KARS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
KARS was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN