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  3. KARS
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Hereditary neuropathy or pain disorder

Gene: KARS

Red List (low evidence)
KARS (lysyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 13 panels

7 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Added new-gene-name tag, new approved HGNC gene symbol for KARS is KARS1
Created: 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.
Created: 29 Apr 2019, 12:53 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.333

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

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: 23768514
Created: 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

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

Panel version: Imported from Hereditary neuropathy panel version 1.58

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Created: 21 Dec 2018, 4:25 a.m.

Panel version: Imported from Hereditary neuropathy panel version 1.49

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from green to red due to reviewer's comments.
Created: 3 May 2016, 4:18 p.m.
Created: 3 May 2016, 4:18 p.m.

Panel version: Imported from Hereditary neuropathy panel version 0.10

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

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

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

Panel version: Imported from Hereditary neuropathy panel version 0

Mary Reilly (Institute of Neurology)

Red List (low evidence)

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

Created: 8 Dec 2015, 3:05 p.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Expert Review Red
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NHS GMS
  • South West GLH
Phenotypes
  • Deafness, autosomal recessive 89, 613916
  • Charcot-Marie-Tooth, Intermediate (Dominant)
  • Charcot-Marie-Tooth, Intermediate (Dominant).
  • Charcot Marie Tooth disease, recessive intermediate, B, 613641
OMIM
601421
Clinvar variants
Variants in KARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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