Mitochondrial disease
Gene: PINK1

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: ICIMD Nosology Group
Disorders of mitochondrial protein quality control
Created: 19 May 2023, 5:38 a.m. | Last Modified: 19 May 2023, 5:38 a.m.

Panel Version: 0.871

Created: 19 May 2023, 5:38 a.m.
Last Modified: 19 May 2023, 5:38 a.m.
Panel version: 0.871

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The PINK1 gene encodes a mitochondrially located serine/threonine kinase. Multiple families reported.
Sources: Expert list
Created: 7 Feb 2021, 3:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease 6, early onset, MIM# 605909

Publications

Created: 7 Feb 2021, 3:22 a.m.

Panel version: Imported from Miscellaneous Metabolic Disorders panel version 0.284

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Expert list

Phenotypes

Parkinson disease 6, early onset, MIM# 605909

OMIM

608309

Clinvar variants

Variants in PINK1

Penetrance

None

Publications

Panels with this gene