Possible mitochondrial disorder, nuclear genes

Gene: VPS13C

Further notes from reviews on the Mitochondrial panel in 2019 (https://panelapp.genomicsengland.co.uk/panels/112/gene/VPS13C/) as to why this gene is not green on the Possible mitochondrial disorder, nuclear genes panel:

Carl Fratter "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."

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

The PINK1-parkin pathway is involved in clearing abnormal mitochondria, rather than being involved in the mitochondrial respiratory chain.

Created: 7 Sep 2026, 1:40 p.m. | Last Modified: 7 Sep 2026, 1:40 p.m.

Panel Version: 5.25

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.

Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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