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  3. PARK7
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Early-onset Parkinson disease

Gene: PARK7

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

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established parkinsons disease gene.
Created: 25 Aug 2023, 4:44 a.m. | Last Modified: 25 Aug 2023, 4:44 a.m.
Panel Version: 0.243

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease MONDO:0005180; autosomal recessive early-onset Parkinson disease 7 MONDO:0011658

Publications

Created: 25 Aug 2023, 4:44 a.m.
Last Modified: 25 Aug 2023, 4:44 a.m.
Panel version: 0.243

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal recessive early-onset Parkinson disease 7 MONDO:0011658
OMIM
602533
Clinvar variants
Variants in PARK7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: park7 has been classified as Green List (High Evidence).

21 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: PARK7 were changed from to autosomal recessive early-onset Parkinson disease 7 MONDO:0011658

20 Apr 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PARK7 were set to

20 Apr 2024, 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 Parkinson disease_MelbourneGenomics_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