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  2. Likely inborn error of metabolism
  3. WARS2
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Likely inborn error of metabolism

Gene: WARS2

Green List (high evidence)
WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000116874
EnsemblGeneIds (GRCh37): ENSG00000116874
OMIM: 604733, Gene2Phenotype
WARS2 is in 7 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Green due to new evidence and expert review. Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green.
Created: 25 Feb 2019, 5:35 p.m.
Created: 25 Feb 2019, 5:35 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.124

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple unrelated individuals with bi-alllelic variants in this gene reported in the literature now.
Created: 1 Sep 2018, 5:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710

Publications

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

Created: 1 Sep 2018, 5:29 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature; good candidate gene
Created: 6 Feb 2016, 11:38 p.m.
Created: 6 Feb 2016, 11:38 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
OMIM
604733
Clinvar variants
Variants in WARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to WARS2. Mode of inheritance for gene WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2 Publications for gene WARS2 were changed from to 28650581; 28905505; 28236339 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: WARS2 was added gene: WARS2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: WARS2 was set to Unknown Phenotypes for gene: WARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)