This Panel is marked as Internal
Dystonia - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- complex parkinsonism
- Choreoacanthocytosis 200150
- OMIM
- 605978
- Clinvar variants
- Variants in VPS13A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: VPS13A was added gene: VPS13A was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13A were set to 11381253; 11381254; 14663054 Phenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150