Hereditary ataxia
Gene: ANO10

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

2 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from expert reviewer and OMIM
Created: 2 Feb 2016, 9:56 a.m.

Created: 2 Feb 2016, 9:56 a.m.

Panel version: 0.2

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of evidence. Postives in our cohort
Created: 24 Nov 2015, 4:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 10,

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2015, 4:56 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Spinocerebellar ataxia, autosomal recessive 10,

OMIM

613726

Clinvar variants

Variants in ANO10

Penetrance

Complete

Panels with this gene

History Filter Activity

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 3