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Possible mitochondrial disorder - nuclear genes

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

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green.
Created: 25 Feb 2019, 5:34 p.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 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

25 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: wars2 has been classified as Green List (High Evidence).

25 Feb 2019, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: WARS2 were set to

25 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: wars2 has been classified as Green List (High Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: WARS2 was added gene: WARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710