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Early-onset Parkinson disease

Gene: VPS13C

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases with biallelic variants.
Sources: Expert list
Created: 28 Mar 2020, 3:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 28 Mar 2020, 3:20 a.m.

Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Parkinson disease 23, autosomal recessive, early onset MIM#616840
OMIM
608879
Clinvar variants
Variants in VPS13C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vps13c has been classified as Green List (High Evidence).

28 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vps13c has been classified as Green List (High Evidence).

28 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: VPS13C was added gene: VPS13C was added to Early onset Parkinson disease. Sources: Expert list Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13C were set to 26942284; 30452786; 28862745 Phenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset MIM#616840 Review for gene: VPS13C was set to GREEN