Early-onset Parkinson disease
Gene: WARS2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.

Six unrelated families reported.

Note balletic variants in this gene also cause a neurodevelopmental disorder.
Created: 18 Jul 2022, 9:01 a.m. | Last Modified: 18 Jul 2022, 9:01 a.m.

Panel Version: 0.136

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinsonism-dystonia 3, childhood-onset, MIM# 619738

Publications

Created: 18 Jul 2022, 9:01 a.m.
Last Modified: 18 Jul 2022, 9:01 a.m.
Panel version: 0.136

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Created: 17 Jul 2022, 12:11 p.m.
Last Modified: 17 Jul 2022, 12:11 p.m.
Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Parkinsonism-dystonia 3, childhood-onset, MIM# 619738

OMIM

604733

Clinvar variants

Variants in WARS2

Penetrance

None

Publications

Panels with this gene