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Hereditary neuropathy NOT PMP22 copy number

Gene: KARS

Red List (low evidence)

KARS (lysyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000065427
EnsemblGeneIds (GRCh37): ENSG00000065427
OMIM: 601421, Gene2Phenotype
KARS is in 14 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.

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

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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.

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

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

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