Early-onset Dementia
Gene: VPS13CEnsemblGeneIds (GRCh38): ENSG00000129003
EnsemblGeneIds (GRCh37): ENSG00000129003
OMIM: 608879, Gene2Phenotype
VPS13C is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Multiple cases with biallelic variants and dementia with Lewy bodies have been reported.
Sources: LiteratureCreated: 25 Apr 2024, 3:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive early-onset Parkinson disease 23 MONDO:0014796
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- autosomal recessive early-onset Parkinson disease 23 MONDO:0014796
- OMIM
- 608879
- Clinvar variants
- Variants in VPS13C
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: vps13c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: vps13c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: vps13c has been classified as Green List (High Evidence).
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 Dementia. Sources: Literature Mode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13C were set to 33579389; 37330543; 34875562 Phenotypes for gene: VPS13C were set to autosomal recessive early-onset Parkinson disease 23 MONDO:0014796 Review for gene: VPS13C was set to GREEN gene: VPS13C was marked as current diagnostic