Early-onset Dementia
Gene: VPS13A

VPS13A (vacuolar protein sorting 13 homolog A)
EnsemblGeneIds (GRCh38): ENSG00000197969
EnsemblGeneIds (GRCh37): ENSG00000197969
OMIM: 605978, Gene2Phenotype
VPS13A is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Cognitive decline is a reported feature of the condition in >3 cases.
Created: 6 Feb 2020, 7:32 a.m. | Last Modified: 6 Feb 2020, 7:32 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Choreoacanthocytosis MIM#200150

Publications

Created: 6 Feb 2020, 7:32 a.m.
Last Modified: 6 Feb 2020, 7:32 a.m.
Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Choreoacanthocytosis MIM#200150

OMIM

605978

Clinvar variants

Variants in VPS13A

Penetrance

None

Panels with this gene

History Filter Activity

6 Feb 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: VPS13A were changed from to Choreoacanthocytosis MIM#200150

6 Feb 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: VPS13A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS13A was added gene: VPS13A 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: VPS13A was set to Unknown

Early-onset Dementia Gene: VPS13A