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  3. VPS13A
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Childhood onset dystonia, chorea or related movement disorder

Gene: VPS13A

Green List (high evidence)
VPS13A (vacuolar protein sorting 13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000197969
EnsemblGeneIds (GRCh37): ENSG00000197969
OMIM: 605978, Gene2Phenotype
VPS13A is in 8 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Green
  • London North GLH
Phenotypes
  • Choreoacanthocytosis 200150
  • complex parkinsonism
OMIM
605978
Clinvar variants
Variants in VPS13A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to VPS13A. Mode of inheritance for gene VPS13A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Choreoacanthocytosis 200150; complex parkinsonism for gene: VPS13A Publications for gene VPS13A were changed from to 14663054; 11381253; 11381254

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: VPS13A was added gene: VPS13A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: VPS13A was set to