Early onset dystonia
Gene: VPS13A
VPS13A (vacuolar protein sorting 13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000197969
EnsemblGeneIds (GRCh37): ENSG00000197969
OMIM: 605978, Gene2Phenotype
VPS13A is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000197969
EnsemblGeneIds (GRCh37): ENSG00000197969
OMIM: 605978, Gene2Phenotype
VPS13A is in 8 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Added this gene to the panel as green due to feedback from Arianna Tucci. Choreoacanthocytosis includes dystonia.Created: 15 Dec 2016, 11:33 a.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Comment from the Parkinson panel: Biallelic mutations cause choreoacanthocytosis, a progressive movement disorder (limb chorea, dystonia of the oral region but also parkinsonism) characterized by cognitive and behavior changes (resemble frontal lobe syndrome), a myopathy that can be subclinical, and chronic hyperCKemia in serum, and seizures. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. CT and MRI reveal atrophy of the caudate nuclei with dilatation of the anterior horns of the lateral ventricles. MRI commonly shows T2-weighted signal increase in the caudate and putamen. Acanthocytes are present in 5 percent-50 percent of the red cell population. Keep this gene in both this gene to both the dystonia panel and pd (complex parkinsonism).Created: 15 Dec 2016, 11:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
complex parkinsonism
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- complex parkinsonism
- OMIM
- 605978
- Clinvar variants
- Variants in VPS13A
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary neuropathy
History Filter Activity
15 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Dec 2016, Gel status: 0
Added New Source
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)VPS13A was added to Early onset dystoniapanel. Sources:
15 Dec 2016, Gel status: 0
Created
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)VPS13A was created by arianna.tucci