Early-onset Dementia

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)

Multiple cases with biallelic variants and dementia with Lewy bodies have been reported.
Sources: Literature
Created: 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

25 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

25 Apr 2024, 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 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