Early onset dystonia
Gene: PINK1EnsemblGeneIds (GRCh38): ENSG00000158828
EnsemblGeneIds (GRCh37): ENSG00000158828
OMIM: 608309, Gene2Phenotype
PINK1 is in 8 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
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PINK1 were set to Parkinson disease 6, early onset
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PINK1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()PINK1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory