Early onset dystonia
Gene: PINK1Comment 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.
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PINK1 were set to Parkinson disease 6, early onset
Mode of inheritance for PINK1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PINK1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory