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Parkinson Disease and Complex Parkinsonism

Gene: VPS13C

No list
VPS13C (vacuolar protein sorting 13 homolog C)
EnsemblGeneIds (GRCh38): ENSG00000129003
EnsemblGeneIds (GRCh37): ENSG00000129003
OMIM: 608879, Gene2Phenotype
VPS13C is in 5 panels

2 reviews

David Collier (King's College London)

Green List (high evidence)

Not associated with late-onset Parkinson's disease
Created: 26 Jun 2024, 3:30 p.m. | Last Modified: 26 Jun 2024, 3:30 p.m.
Panel Version: 1.121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dementia with Lewy bodies; Early-onset autosomal recessive Parkinson's disease; Early onset Parkinsonism

Publications

Created: 26 Jun 2024, 3:30 p.m.
Last Modified: 26 Jun 2024, 3:30 p.m.
Panel version: 1.121

Zornitza Stark (Australian Genomics)

Green List (high evidence)

>3 individuals with biallelic variants.
Sources: Expert list
Created: 23 Sep 2020, 12:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease 23, autosomal recessive, early onset MIM#616840

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Sep 2020, 12:18 a.m.

Panel version: 1.68

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Parkinson disease 23, autosomal recessive, early onset MIM#616840
OMIM
608879
Clinvar variants
Variants in VPS13C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: VPS13C was added gene: VPS13C was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13C were set to 26942284; 30452786; 28862745 Phenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset MIM#616840 Review for gene: VPS13C was set to GREEN gene: VPS13C was marked as current diagnostic