Early onset dystonia
Gene: ANO3EnsemblGeneIds (GRCh38): ENSG00000134343
EnsemblGeneIds (GRCh37): ENSG00000134343
OMIM: 610110, Gene2Phenotype
ANO3 is in 7 panels
3 reviews
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Comment 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
Ellen McDonagh (Genomics England Curator)
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.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Unconfirmed on GeneReviews listCreated: 27 May 2016, 9:28 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dystonia 24, 615034
- familial form of cranio-cervical dystonia
- OMIM
- 610110
- Clinvar variants
- Variants in ANO3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ANO3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ANO3 was added to Early onset dystoniapanel. Sources: Expert
Added New Source
GEL ()ANO3 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen