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Early-onset Parkinson disease

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 10 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established Parkinsonian gene
Created: 8 Sep 2023, 12:25 a.m. | Last Modified: 8 Sep 2023, 12:25 a.m.
Panel Version: 0.264

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
chorea-acanthocytosis MONDO:0008695

Publications

Created: 8 Sep 2023, 12:25 a.m.
Last Modified: 8 Sep 2023, 12:25 a.m.
Panel version: 0.264

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • chorea-acanthocytosis MONDO:0008695
OMIM
605978
Clinvar variants
Variants in VPS13A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vps13a has been classified as Green List (High Evidence).

21 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: VPS13A were changed from to chorea-acanthocytosis MONDO:0008695

21 Apr 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: VPS13A were set to

21 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: VPS13A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS13A was added gene: VPS13A was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: VPS13A was set to Unknown