Parkinson Disease and Complex Parkinsonism
Gene: ANO3Monoallelic mutations cause primary craniocervical dystonia. Dystonia can be a concurrent feature of parkinsonism and/or complex parkinsonisms. However, primary dystonia is a distinct clinical entity. Consider moving this gene to the dystonia panel?Created: 14 Dec 2016, 5:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
primary craniocervical dystonia
Comment on list classification: Discussed with Arianna and as monoallelic variants cause primary craniocervical dystonia, decision was made to take this off the green list.Created: 8 Dec 2016, 3 p.m.
Comment on list classification: Green on the Early onset dystonia Version 1.0 panel.Created: 28 Oct 2016, 12:19 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.Created: 10 Jun 2016, 10:57 a.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Red List (Low 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).
ANO3 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list
ANO3 was created by ellenmcdonagh