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  3. ANO3
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Regression

Gene: ANO3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Adult-onset dystonia, rather than neurodevelopmental regression.
Created: 26 Mar 2021, 9:29 a.m. | Last Modified: 26 Mar 2021, 9:29 a.m.
Panel Version: 0.259

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 26 Mar 2021, 9:29 a.m.
Last Modified: 26 Mar 2021, 9:29 a.m.
Panel version: 0.259

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
OMIM
610110
Clinvar variants
Variants in ANO3
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ano3 has been classified as Red List (Low Evidence).

26 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANO3 were changed from to Dystonia 24, 615034; familial form of cranio-cervical dystonia

26 Mar 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ano3 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANO3 was added gene: ANO3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANO3 was set to Unknown