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DYT12
Chr 19ADdystonia 12
Also known as: RDP
I cannot provide a clinical summary for this gene because the information provided does not include the protein function, which is required according to the guidelines. While I can see that mutations cause Dystonia-12 with autosomal dominant inheritance, I would need additional data about what the DYT12 protein actually does to write an appropriate clinical summary.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT12?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
DYT12 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Studies of the Variable Phenotypic Presentations of Rapid-Onset Dystonia Parkinsonism and Other Movement Disorders
ACTIVE NOT RECRUITINGDystonia Genotype-Phenotype Correlation
RECRUITINGExternal Resources
Links to major genomics databases and tools