Genes in panel

Adult onset movement disorder

Gene: ANO3

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London North GLH
  • 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

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ANO3.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ANO3.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ANO3 was added gene: ANO3 was added to Adult onset movement disorder. 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