Early onset dystonia

Gene: PINK1

Green List (high evidence)

PINK1 (PTEN induced putative kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000158828
EnsemblGeneIds (GRCh37): ENSG00000158828
OMIM: 608309, Gene2Phenotype
PINK1 is in 9 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: There is a dystonia at onset in 16% of patients according to the OMIM clinical synopsis. Discussed internally and agreed this should remain green on the dystonia panel.
Created: 2 Sep 2016, 11:42 a.m.
Comment on list classification: Multiple cases with Parkinson disease 6, early onset reported in OMIM, for different variants and from different ethnicities.
Created: 23 Aug 2016, 2:30 p.m.
Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL).
Created: 19 Aug 2016, 9:26 a.m.
Comment on list classification: Is on the Parkinson's Disease NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 8:20 a.m.
Comment on mode of inheritance: Source: OMIM.
Created: 10 Jun 2016, 6:37 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
OMIM
608309
Clinvar variants
Variants in PINK1
Penetrance
Complete
Publications
  • Parkinson disease 6, early onset
Panels with this gene

History Filter Activity

17 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

2 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PINK1 were set to Parkinson disease 6, early onset

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PINK1 was changed to BIALLELIC, autosomal or pseudoautosomal

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PINK1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory