SCA29

Chr 3

spinocerebellar ataxia 29

Also known as: ACV, CLA4

NCBI Gene: 100038747
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
1
Active trials
Clinical Summary— SCA29
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (4)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCA29?content-type=application/json&expand=1

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SCA29 · protein map & ClinVar variants

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

Gene2Phenotype Curations

ITPR1-related Gillespie Syndrome

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersEye
G2P ↗

ITPR1-related Gillespie Syndrome

definitive
ADDominant NegativeAltered Gene Product Structure
Dev. DisordersEye
G2P ↗

ITPR1-related spinocerebellar ataxia, congenital nonprogressive

strong
ADUndeterminedAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — SCA29
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP et al.·Mov Disord
2024
ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism.
Kleyner R et al.·Cold Spring Harb Mol Case Stud
2024
Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.
In Lee J et al.·Mol Genet Genomic Med
2024Case report
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R et al.·Int J Mol Sci
2022
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M et al.·Eur J Hum Genet
2018
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada A et al.·Brain Dev
2019
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.
Klar J et al.·Eur J Hum Genet
2017
[Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene].
Zhi YN et al.·Zhonghua Yi Xue Yi Chuan Xue Za Zhi
2023Case report
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL et al.·Orphanet J Rare Dis
2017Review
ITPR1: The missing gene in miosis-ataxia syndrome?
Chesneau B et al.·Am J Med Genet A
2024Case report
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