autosomal recessive spinocerebellar ataxia 10
Findings
No curated finding names autosomal recessive spinocerebellar ataxia 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.
Definition from the Mondo Disease Ontology (MONDO:0013392), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar atrophyHPOHP:0001272
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- 8 of 8 reported patients
- Hyperactive Achilles reflexHPOHP:0033206
- 8 of 8 reported patients
- Hyperactive patellar reflexHPOHP:0007083
- 8 of 8 reported patients
- Limb ataxiaHPOHP:0002070
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 25
- Brisk reflexesHPOHP:0001348
- Frequent (30% to 79% of cases)
- Downbeat nystagmusHPOHP:0010545
- 3 of 8 reported patients
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
- Dysmetric saccadesHPOHP:0000641
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
- FasciculationsHPOHP:0002380
- 2 of 8 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ANO10HGNC:25519
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive spinocerebellar ataxia 10
- Also called
- ANO10 autosomal recessive cerebellar ataxiaautosomal recessive cerebellar ataxia caused by mutation in ANO10autosomal recessive spinocerebellar ataxia type 10SCAR10spinocerebellar ataxia, autosomal recessive type 10