Parkinson Disease and Complex Parkinsonism
Gene: ANO3

ANO3 (anoctamin 3)
EnsemblGeneIds (GRCh38): ENSG00000134343
EnsemblGeneIds (GRCh37): ENSG00000134343
OMIM: 610110, Gene2Phenotype
ANO3 is in 7 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Monoallelic 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

Created: 14 Dec 2016, 5:27 p.m.

Panel version: 0.161

Ellen McDonagh (Genomics England Curator)

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.

Created: 10 Jun 2016, 10:57 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.20

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert list

Phenotypes

Dystonia 24, 615034
familial form of cranio-cervical dystonia

OMIM

610110

Clinvar variants

Variants in ANO3

Penetrance

Complete

Panels with this gene