1. Panels
  2. DDG2P
  3. ANO3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: ANO3

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ANO3-related dystonia are limited, monoallelic_autosomal and undetermined (PMIDs: 33502045, 38079528). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03570.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease ANO3-related dystonia, OMIM:615034 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33502045;38079528).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

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

Phenotypes
OMIM:615034.0; ANO3-related dystonia; ANO3-related dystonia, OMIM:615034; MONDO:0014019

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • ANO3-related dystonia, OMIM:615034
OMIM
610110
Clinvar variants
Variants in ANO3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ANO3 was changed from Other to None

21 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ANO3 was added gene: ANO3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANO3 were set to 38079528; 33502045 Phenotypes for gene: ANO3 were set to ANO3-related dystonia, OMIM:615034 Mode of pathogenicity for gene: ANO3 was set to Other