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Hereditary neuropathy
Gene: KARS

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: 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: 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

20920668

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

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: 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: 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: 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: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
South West GLH
Expert Review Red
UKGTN
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Charcot-Marie-Tooth, Intermediate (Dominant).
Charcot-Marie-Tooth, Intermediate (Dominant)
Deafness, autosomal recessive 89, 613916
Deafness, autosomal recessive 89, 613916
Charcot Marie Tooth disease, recessive intermediate, B, 613641
Deafness, autosomal recessive 89, 613916

Tags

new-gene-name

OMIM

601421

Clinvar variants

Variants in KARS

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: KARS.

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KARS.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to KARS.

3 May 2016, Gel status: 1