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Gene: WARS2

Green List (high evidence)

WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000116874
EnsemblGeneIds (GRCh37): ENSG00000116874
OMIM: 604733, Gene2Phenotype
WARS2 is in 10 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances.

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding. NEMMLAS is associated with childhood or early adulthood onset.

p.(Trp13Gly) is a hypomorphic allele associated with NEMMLAS and only causes disease when in trans with a more deleterious variant. It does not cause disease in a homozygous state (PMID: 37107582).

It is unclear whether these are two distinct disorders or whether they represent a spectrum of severity for a single condition (GeneReviews PMID: 37824696).
Created: 21 Jan 2025, 2:47 a.m. | Last Modified: 21 Jan 2025, 2:47 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710; Parkinsonism-dystonia 3, childhood-onset MIM#619738

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710
  • Parkinsonism-dystonia 3, childhood-onset MIM#619738
OMIM
604733
Clinvar variants
Variants in WARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WARS2 were changed from Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710; Parkinsonism-dystonia 3, childhood-onset MIM#619738

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WARS2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WARS2 was added gene: WARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3), Autosomal recessive