Complex Parkinsonism (includes pallido-pyramidal syndromes)Gene: GNAL
reported to cause dystonia, not complex parkinsonism
Created: 29 Jun 2016, 7:16 p.m.
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Huw Morris (UCL) suggested that this gene be demoted to amber on the dystonia gene panel due to some uncertainty regarding the prevelance and the pathogenicity of variants - see PMID: 25111208 which is a comment on PMID: 24535567, and the author's reply PMID: 25111209. Since then (2014) multiple studies have been published - see PMIDs provided under publications below.
Created: 10 Jun 2016, 11:11 a.m.
Publications for GNAL were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 27222887; 27123488; 27093447; 26810727; 26725140; 26506956; 26365774; 25847575; 25382112
This gene has been classified as Amber List (Moderate Evidence).
GNAL was created by ellenmcdonagh
GNAL was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert list