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Inborn errors of metabolism

Gene: VPS13C

Red List (low evidence)

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

5 reviews

Sarah Leigh (Genomics England Curator)

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.

Anna de Burca (Genomics England Curator)

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

Carl Fratter (Oxford University Hospitals NHS Trust)

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

Ivone Leong (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
608879
Clinvar variants
Variants in VPS13C
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: VPS13C was added gene: VPS13C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: VPS13C was set to Unknown