Hereditary neuropathy or pain disorder
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
gene: KARS was added gene: KARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: KARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KARS were set to 25476837; 23768514; 20920668 Phenotypes for gene: KARS were set to Deafness, autosomal recessive 89, 613916; Charcot-Marie-Tooth, Intermediate (Dominant); Charcot-Marie-Tooth, Intermediate (Dominant).; Charcot Marie Tooth disease, recessive intermediate, B, 613641