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Hereditary neuropathy NOT PMP22 copy number

Gene: WARS

Green List (high evidence)

WARS (tryptophanyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000140105
EnsemblGeneIds (GRCh37): ENSG00000140105
OMIM: 191050, Gene2Phenotype
WARS is in 2 panels

3 reviews

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mutations present in several unrelated families. Additional cases on GEL
Created: 9 May 2019, 12:24 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1
Created: 18 Dec 2019, 4:12 p.m. | Last Modified: 18 Dec 2019, 4:12 p.m.
Panel Version: 1.0
Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green/ Additional evidence: 3 cases in literature with same variant on diff haplotypes and postulated dom neg effect
Created: 6 Dec 2019, 3:06 p.m. | Last Modified: 6 Dec 2019, 3:06 p.m.
Panel Version: 0.40
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:26 p.m. | Last Modified: 6 Dec 2019, 1:26 p.m.
Panel Version: 0.21
Comment on list classification: new gene added from the GLH, this gene was rated as Green due to cases in the 100,000 Genomes Project in addition to the published cases
Created: 12 Nov 2019, 11:09 a.m. | Last Modified: 12 Nov 2019, 11:09 a.m.
Panel Version: 1.337
Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1
Created: 6 Sep 2019, 2:49 p.m. | Last Modified: 6 Sep 2019, 2:49 p.m.
Panel Version: 1.333
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
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.

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

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Neuronopathy, distal hereditary motor, type IX, 617721
Tags
new-gene-name
OMIM
191050
Clinvar variants
Variants in WARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

5 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: WARS was added gene: WARS was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WARS were set to 28369220 Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX, 617721