Dystonia - childhood onset

Gene: ANO3

Green List (high evidence)

ANO3 (anoctamin 3)
EnsemblGeneIds (GRCh38): ENSG00000134343
EnsemblGeneIds (GRCh37): ENSG00000134343
OMIM: 610110, Gene2Phenotype
ANO3 is in 6 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • familial form of cranio-cervical dystonia
  • Dystonia 24, 615034
OMIM
610110
Clinvar variants
Variants in ANO3
Penetrance
None
Publications
  • 27392807
  • 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor
  • 24442708
  • 25847575
  • 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis
  • 23200863
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: ANO3 was added gene: ANO3 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANO3 were set to 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24442708; 25847575; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863 Phenotypes for gene: ANO3 were set to familial form of cranio-cervical dystonia; Dystonia 24, 615034