ATXN8OS

Chr 13ADMulti

ATXN8 opposite strand lncRNA

Also known as: KLHL1AS, NCRNA00003, SCA8

NCBI Gene: 6315ENSG00000230223UniProt: P0DMR3

This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]

Primary Disease Associations & Inheritance

{Parkinson disease, susceptibility to}MIM #168600
ADMulti
Spinocerebellar ataxia 8MIM #608768
AD
128
ClinVar variants
61
Pathogenic / LP
—
pLI score
1
Active trials
Clinical Summary— ATXN8OS
📋
ClinVar Variants
61 Pathogenic / Likely Pathogenic· 46 VUS of 128 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

128 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic59
Likely Pathogenic2
VUS46
Likely Benign9
Benign12
59
Pathogenic
2
Likely Pathogenic
46
VUS
9
Likely Benign
12
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
59
0
59
Likely Pathogenic
0
0
2
0
2
VUS
0
20
26
0
46
Likely Benign
0
0
7
2
9
Benign
0
0
11
1
12
Total0201053128

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ATXN8OS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

{Parkinson disease, susceptibility to}

MIM #168600

Molecular basis of disorder known

Autosomal dominantMultifactorial

Spinocerebellar ataxia 8

MIM #608768

Molecular basis of disorder known

Autosomal dominant
📖
GeneReview available — ATXN8OS
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
Baviera-Muñoz R et al.·Mov Disord
2024
Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Rudaks LI et al.·Ann Clin Transl Neurol
2025
Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.
Manini A et al.·J Neurol
2025Cohort
Spinocerebellar ataxia type 8 presents as progressive supranuclear palsy.
Jiang L et al.·Neurosciences (Riyadh)
2023Case report
PSP-Phenotype in SCA8: Case Report and Systemic Review.
Samukawa M et al.·Cerebellum
2019Case report
[Spinocerebellar ataxia type 8 in Russian patients].
Nuzhnyi EP et al.·Zh Nevrol Psikhiatr Im S S Korsakova
2022Cohort
Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.
Wernick AI et al.·Clin Auton Res
2021Cohort
Hemichorea as the sole clinical manifestation of spinocerebellar ataxia type 8: a case report.
Kobayashi M·BMC Neurol
2025Case report
Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study.
Hu Z et al.·Mov Disord
2026
Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci.
Chen IC et al.·BMC Mol Biol
2009
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

RECRUITING
NCT01793168Sanford HealthStarted 2010-07

External Resources

Links to major genomics databases and tools