Early onset dystonia
Gene: ATP7BComment on list classification: Testing for this gene for Wilson's disease in the UK is mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:11 a.m.
Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL). There are multiple cases with different variants reported in OMIM for the association with Wilson disease.Created: 9 Jun 2016, 11:45 a.m.
Comment on mode of inheritance: Sourced from OMIM.Created: 9 Jun 2016, 11:41 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).
Phenotypes for ATP7B were set to Dystonia; Wilson Disease
Mode of inheritance for ATP7B was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ATP7B was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory