Likely inborn error of metabolism

Gene: VPS13C

Comment 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.

Red List (low evidence)

Not primary mitochondrial, although abnornal mitochondria, but the phenotype is completely different

Created: 19 Jun 2019, 12:26 p.m.

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

Red List (low evidence)

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.

Green List (high evidence)

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

• 26942284

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