Early-onset Dementia
Gene: PARK7

PARK7 (Parkinsonism associated deglycase)
EnsemblGeneIds (GRCh38): ENSG00000116288
EnsemblGeneIds (GRCh37): ENSG00000116288
OMIM: 602533, Gene2Phenotype
PARK7 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Dementia or cognitive decline have been reported as a feature of the condition in >3 cases/families
Created: 6 Feb 2020, 5:38 a.m. | Last Modified: 6 Feb 2020, 5:38 a.m.

Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease 7, autosomal recessive early-onset MIM#606324

Publications

Created: 6 Feb 2020, 5:38 a.m.
Last Modified: 6 Feb 2020, 5:38 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

602533

Clinvar variants

Variants in PARK7

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: PARK7 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: PARK7 was added gene: PARK7 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: PARK7 was set to Unknown

Early-onset Dementia Gene: PARK7