Early-onset Dementia
Gene: PINK1

PINK1 (PTEN induced putative kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000158828
EnsemblGeneIds (GRCh37): ENSG00000158828
OMIM: 608309, Gene2Phenotype
PINK1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Dementia or cognitive decline has been reported as a feature of the condition in >3 cases.
Created: 6 Feb 2020, 5:40 a.m. | Last Modified: 6 Feb 2020, 5:40 a.m.

Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease 6, early onset MIM#605909

Publications

Created: 6 Feb 2020, 5:40 a.m.
Last Modified: 6 Feb 2020, 5:40 a.m.
Panel version: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

OMIM

608309

Clinvar variants

Variants in PINK1

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: PINK1 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: PINK1 was added gene: PINK1 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: PINK1 was set to Unknown

Early-onset Dementia Gene: PINK1