Incidentalome
Gene: PARK7
PARK7 (Parkinsonism associated deglycase)
EnsemblGeneIds (GRCh38): ENSG00000116288
EnsemblGeneIds (GRCh37): ENSG00000116288
OMIM: 602533, Gene2Phenotype
PARK7 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000116288
EnsemblGeneIds (GRCh37): ENSG00000116288
OMIM: 602533, Gene2Phenotype
PARK7 is in 5 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
Note that the gene was renamed from DJ1 to PARK7 (articles and OMIM reference our gene with previous name)
Variants in PARK7 (DJ1) gene are a rare cause of Parkinson Disease and is currently only reported in 3 individuals from 3 unrelated families.
PMID: 11462174; 11835383 – 2 individuals from 2 unrelated families with variants in DJ1 that were causative of Parkinson Disease.
PMID: 16240358 – 3 affected sibs from a consanguineous Italian familyCreated: 30 Mar 2023, 6:48 a.m. | Last Modified: 30 Mar 2023, 6:50 a.m.
Panel Version: 0.226
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson Disease (MONDO:0005180; MIM: 606324)
Publications
Bryony Thompson (Royal Melbourne Hospital)
Dementia or cognitive decline have been reported as a feature of the condition in >3 cases/familiesCreated: 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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 602533
- Clinvar variants
- Variants in PARK7
- Penetrance
- None
- Panels with this gene
History Filter Activity
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 Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PARK7 was set to Unknown