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Mendeliome

Gene: ANO10

Green List (high evidence)

ANO10 (anoctamin 10)
EnsemblGeneIds (GRCh38): ENSG00000160746
EnsemblGeneIds (GRCh37): ENSG00000160746
OMIM: 613726, Gene2Phenotype
ANO10 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 30 Apr 2022, 7:16 a.m. | Last Modified: 30 Apr 2022, 7:16 a.m.
Panel Version: 0.13464

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 10, MIM#613728

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset of ataxia is in adolescence or adulthood.
Sources: Expert list
Created: 16 Apr 2020, 10:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 10 MIM#613728

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, MIM#613728
OMIM
613726
Clinvar variants
Variants in ANO10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10, MIM#613728

30 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANO10 were set to

29 Apr 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728

29 Apr 2022, Gel status: 3

Set mode of pathogenicity

Elena Savva (Victorian Clinical Genetics Services)

Mode of pathogenicity for gene: ANO10 was changed from to None

29 Apr 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ANO10 were changed from to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728

29 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ano10 has been classified as Green List (High Evidence).

29 Apr 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: ANO10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANO10 was added gene: ANO10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANO10 was set to Unknown