Genes in panel

Neurodegenerative disorders - adult onset

Gene: ANO3

Red List (low evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Dystonia 24 - an autosomal dominant form of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs: several cases but large number of variants also found in databases and healthy controls, so pathogenicity is unclear (Lohmann and Klein 2017). Tunc et al 2019 report de novo variants as being causative in 3 unrelated cases with childhood onset, generalized dystonia, 2 had same variant - amber for later onset focal dystonia, red for childhood onset dystonia?
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia 24, 615034; familial form of cranio-cervical dystonia

Publications

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Associated with dystonia
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dystonia 24, 615034; familial form of cranio-cervical dystonia

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames 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, 5:35 p.m.

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

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
OMIM
610110
Clinvar variants
Variants in ANO3
Penetrance
None
Publications
  • 25847575
  • 24442708
  • 27392807
  • 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor
  • 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

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to ANO3. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ANO3.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ANO3.

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.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Dystonia 24, 615034; familial form of cranio-cervical dystonia for gene: ANO3

18 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ANO3 was added gene: ANO3 was added to Neurodegenerative disorders - adult 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 25847575; 24442708; 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 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 Dystonia 24, 615034; familial form of cranio-cervical dystonia