1. Panels
  2. Dystonia - isolated/combined
  3. ANO3
STRs in panel
Prev Next
Regions in panel
Prev Next

Dystonia - isolated/combined

Gene: ANO3

Green List (high evidence)
ANO3 (anoctamin 3)
EnsemblGeneIds (GRCh38): ENSG00000134343
EnsemblGeneIds (GRCh37): ENSG00000134343
OMIM: 610110, Gene2Phenotype
ANO3 is in 3 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

> 10 variants reported LP/P in the review by PMID 33388357, 6 de novo, late onset. The phenotype is cranio-cervical dystonia and the most common associated features are head and/or limb tremor. Mechanism is not clearly established and functional studies are warranted.
Created: 26 Mar 2021, 4:52 a.m. | Last Modified: 26 Mar 2021, 4:52 a.m.
Panel Version: 0.26

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia 24 (MIM#615034)

Publications

Created: 26 Mar 2021, 4:52 a.m.
Last Modified: 26 Mar 2021, 4:52 a.m.
Panel version: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
OMIM
610110
Clinvar variants
Variants in ANO3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ano3 has been classified as Green List (High Evidence).

26 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANO3 were set to

26 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANO3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ANO3 was added gene: ANO3 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia