SCAX5
Chr XXLRSpinocerebellar ataxia, X-linked 5
Primary Disease Associations & Inheritance
Spinocerebellar ataxia, X-linked 5MIM #300703
XLR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SCAX5
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCAX5?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SCAX5 · 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
SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5
MIM #300703 · %
X-linked recessive
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
Orphanet
Rare disease encyclopedia and gene-disease associations
SFARI Gene
Autism-gene association scoring (SFARI)
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
Clinical Literature
Landmark / reviewRecent case evidence
No publications found for SCAX5
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
Orphanet
Rare disease encyclopedia and gene-disease associations
SFARI Gene
Autism-gene association scoring (SFARI)
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)