Mitochondrial disorders
Gene: VPS13CComment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.Created: 19 Jun 2019, 12:44 p.m.
Not primary mitochondrial, although abnornal mitochondria, but the phenotype is completely differentCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Parkinson disease 23, autosomal recessive, early onset, 616840
Red - not considered a primary mitochondrial disorder; VPS13C appears to function in the PINK1-parkin pathway and these genes are not included within the mito disease panel.Created: 11 Jun 2019, 3:59 p.m.
Phenotypes
Parkinson disease 23, autosomal recessive, early onset, 616840
Comment on list classification: Promoted from red to green based on expert review. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene.Created: 3 May 2019, 12:19 p.m.
Three unrelated individuals with bi-alllelic variants reported, and abnormal mitochondrial morphology and function.Created: 1 Sep 2018, 5:26 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
Gene: vps13c has been classified as Red List (Low Evidence).
Gene: vps13c has been classified as Green List (High Evidence).
Publications for gene: VPS13C were set to 26942284
Mode of inheritance for gene: VPS13C was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13C were set to 616840
Publications for gene: VPS13C were set to
Phenotypes for gene: VPS13C were changed from to Parkinson disease 23, autosomal recessive, early onset, 616840
VPS13C was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
VPS13C was created by Sarah Leigh