Early onset dystonia
Gene: ANO3Comment from the Parkinson panel: 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: 15 Dec 2016, 11:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
primary craniocervical dystonia
Comment on list classification: Discussed internally with Clinical Team and decided to promoted to green.Created: 2 Sep 2016, 11:27 a.m.
Comment on list classification: 3 families and one case reported in OMIM by PMID: 23200863. However one study (PMID: 24151159) raised the issue that rare variants were found in 2 control cohorts used.Created: 23 Aug 2016, 10:21 a.m.
Comment on list classification: Promoted to green due to information within the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for dystonia. 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: 23 Aug 2016, 9:53 a.m.
Comment on list classification: Promoted this gene to amber due to feedback from Huw Morris (UCL).Created: 9 Jun 2016, 11:22 a.m.
Comment on list classification: Unconfirmed on GeneReviews listCreated: 27 May 2016, 9:28 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).
This gene has been classified as Amber List (Moderate Evidence).
Publications for ANO3 were set to 25847575; 24442708; 24151159 "Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis"; 24094724 "Rare variants in ANO3 are not a susceptibility factor in essential tremor"; 23200863; 27392807
Phenotypes for ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia
This gene has been classified as Green List (High Evidence).
Publications for ANO3 were set to PMID: 25847575; PMID: 24442708; PMID: 24151159; PMID: 24094724 "Rare variants in ANO3 are not a susceptibility factor in essential tremor"; PMID: 23200863
Publications for ANO3 were set to PMID: 25847575; PMID: 24442708; PMID: 24151159; PMID: 24094724 "Rare variants in ANO3 are not a susceptibility factor in essential tremor"; PMID: 23200863; http://omim.org/entry/610110
Publications for ANO3 were set to PMID: 25847575; PMID: 24442708; PMID: 24151159; PMID: 24094724 "Rare variants in ANO3 are not a susceptibility factor in essential tremor"; PMID: 23200863
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene ANO3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ANO3 was added to Early onset dystoniapanel. Sources: Expert
ANO3 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen