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Hereditary neuropathy
Gene: YARS

YARS (tyrosyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000134684
EnsemblGeneIds (GRCh37): ENSG00000134684
OMIM: 603623, Gene2Phenotype
YARS is in 5 panels

9 reviews

Sarah Leigh (Genomics England Curator)

The new gene for YARS is YARS1
Created: 6 Jul 2020, 6:26 p.m. | Last Modified: 6 Jul 2020, 6:26 p.m.

Panel Version: 1.369

Created: 6 Jul 2020, 6:26 p.m.
Last Modified: 6 Jul 2020, 6:26 p.m.
Panel version: 1.369

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Bristol - no pathogenic or likely pathogenic variants out of approx.1900 patients tested. PMID:16429158 - two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. PMID:19561293 - Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Charcot Marie Tooth disease, dominant intermediate C, 608323

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

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

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, 9:26 a.m.

Panel version: 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

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

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

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

Panel version: 0

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 1:11 p.m.

Created: 10 Jun 2016, 1:11 p.m.

Panel version: 0.193

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

South West GLH
NHS GMS
London North GLH
Expert Review Green
Emory Genetics Laboratory
UKGTN
Expert list
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Charcot Marie Tooth disease, dominant intermediate C, 608323
Charcot Marie Tooth disease, dominant intermediate C, 608323

Tags

new-gene-name

OMIM

603623

Clinvar variants

Variants in YARS

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

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

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot Marie Tooth disease, dominant intermediate C, 608323 for gene: YARS Publications for gene YARS were changed from to 16429158; 19561293

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to YARS.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to YARS.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to YARS. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 May 2016, Gel status: 4