Mitochondrial disease
Gene: VPS13C

VPS13C (vacuolar protein sorting 13 homolog C)
EnsemblGeneIds (GRCh38): ENSG00000129003
EnsemblGeneIds (GRCh37): ENSG00000129003
OMIM: 608879, Gene2Phenotype
VPS13C is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated patients with biallelic variants in the VPS13C gene. Four of the 5 variants were truncating. Direct functional studies of the variants were not performed; however, in vitro cellular studies showed that knockdown of VPS13C resulted in abnormal mitochondrial morphology and function.
Created: 18 Mar 2020, 3:49 a.m. | Last Modified: 18 Mar 2020, 3:49 a.m.

Panel Version: 0.193

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early-onset Parkinson disease-23, MIM# 616840

Publications

26942284

Created: 18 Mar 2020, 3:49 a.m.
Last Modified: 18 Mar 2020, 3:49 a.m.
Panel version: 0.193

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Early-onset Parkinson disease-23, MIM# 616840

OMIM

608879

Clinvar variants

Variants in VPS13C

Penetrance

None

Publications

26942284

Panels with this gene