Early-onset Dementia
Gene: VPS35

VPS35 (VPS35, retromer complex component)
EnsemblGeneIds (GRCh38): ENSG00000069329
EnsemblGeneIds (GRCh37): ENSG00000069329
OMIM: 601501, Gene2Phenotype
VPS35 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

In a systematic review of VPS35, seven out of 24 patients had cognitive impairment. No patient received a diagnosis of dementia. A mouse model with hemizygous deletion of Vps53 had an Alzheimer's disease-like phenotype.
Created: 6 Feb 2020, 8:02 a.m. | Last Modified: 6 Feb 2020, 8:02 a.m.

Panel Version: 0.15

Phenotypes
{Parkinson disease 17} MIM#614203

Publications

Created: 6 Feb 2020, 8:02 a.m.
Last Modified: 6 Feb 2020, 8:02 a.m.
Panel version: 0.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services
Expert Review Green

Phenotypes

{Parkinson disease 17} MIM#614203
Cognitive decline

OMIM

601501

Clinvar variants

Variants in VPS35

Penetrance

None

Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Feb 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: VPS35 were changed from to {Parkinson disease 17} MIM#614203; Cognitive decline

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS35 was added gene: VPS35 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: VPS35 was set to Unknown

Early-onset Dementia Gene: VPS35