Mitochondrial disorders
Gene: WARS2

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: 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: 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: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

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

OMIM

604733

Clinvar variants

Variants in WARS2

Penetrance

Complete

Publications

Panels with this gene