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Early-onset Parkinson disease

Gene: PINK1

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM notes some het carriers being of higher risk of PD, but nothing established.

Kumar (2017): missense variants result in a sign. reduced catalytic enzyme ability -> LOF established mechanism

Intragenic CNVs are reported (OMIM)
Created: 30 May 2021, 9:54 p.m. | Last Modified: 30 May 2021, 9:54 p.m.
Panel Version: 0.102

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease 6, early onset MIM#605909

Publications

Created: 30 May 2021, 9:54 p.m.
Last Modified: 30 May 2021, 9:54 p.m.
Panel version: 0.102

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinson disease 6, early onset MIM#605909
OMIM
608309
Clinvar variants
Variants in PINK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pink1 has been classified as Green List (High Evidence).

31 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset MIM#605909

31 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PINK1 were set to

31 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 Parkinson disease_MelbourneGenomics_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