Early onset dystonia
Gene: PRKNNew approved gene symbol is PRKNCreated: 24 Mar 2017, 11:30 a.m.
Comment on list classification: Multiple cases with Parkinson disease, juvenile, type 2 and different variants within this gene in OMIM.Created: 23 Aug 2016, 2:16 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 UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for parkinson's disease and parkinsonism.Created: 10 Jun 2016, 7:44 a.m.
Comment on mode of inheritance: Source: OMIM.Created: 10 Jun 2016, 6:34 a.m.
PARK2 was changed to PRKN
new-gene-name was removed from PARK2. Panel: Early onset dystonia
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).
Phenotypes for PARK2 were set to Dystonia; juvenile parkinsonism/dystonia;Parkinson disease, juvenile, type 2
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PARK2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for PARK2 were set to Dystonia; juvenile parkinsonism/dystonia
This gene has been classified as Green List (High Evidence).
PARK2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory