Ataxia - paediatric
Gene: ANO10EnsemblGeneIds (GRCh38): ENSG00000160746
EnsemblGeneIds (GRCh37): ENSG00000160746
OMIM: 613726, Gene2Phenotype
ANO10 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
Onset of ataxia is in adolescence or adulthood.
Sources: Expert listCreated: 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
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ano10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ano10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ANO10 was added gene: ANO10 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 Review for gene: ANO10 was set to GREEN