Possible mitochondrial disorder - nuclear genes
Gene: VPS13CEnsemblGeneIds (GRCh38): ENSG00000129003
EnsemblGeneIds (GRCh37): ENSG00000129003
OMIM: 608879, Gene2Phenotype
VPS13C is in 5 panels
2 reviews
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Parkinson disease 23, autosomal recessive, early onset, 616840
- OMIM
- 608879
- Clinvar variants
- Variants in VPS13C
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: VPS13C was added gene: VPS13C was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset, 616840