DYT11

Chr 7AD

dystonia 11, myoclonic

NCBI Gene: 29853

Primary Disease Associations & Inheritance

Dystonia-11, myoclonicMIM #159900
AD
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
1
Active trials
Clinical Summary— DYT11
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT11?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DYT11 · 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

Dystonia-11, myoclonic

MIM #159900

Molecular basis of disorder known

Autosomal dominant
📖
GeneReview available — DYT11
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Progressive dystonia.
Klein C et al.·Handb Clin Neurol
2013Review
Dystonia.
Morgante F et al.·Continuum (Minneap Minn)
2013Review
Genetics in dystonia.
Klein C·Parkinsonism Relat Disord
2014Review
Myoclonus-dystonia syndrome.
Nardocci N·Handb Clin Neurol
2011Review
Engineering animal models of dystonia.
Oleas J et al.·Mov Disord
2013Review
Overview of primary monogenic dystonia.
Spatola M et al.·Parkinsonism Relat Disord
2012Review
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.
Cilia R et al.·Neurology
2014Cohort
The monogenic primary dystonias.
Müller U·Brain
2009Review
Cognition and psychopathology in myoclonus-dystonia.
van Tricht MJ et al.·J Neurol Neurosurg Psychiatry
2012
[Genetics of dystonia].
Klein C et al.·Nervenarzt
2000Review
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
DystoniaDystonia; IdiopathicDystonia, Primary

Dystonia Genotype-Phenotype Correlation

RECRUITING
NCT03428009University of Texas Southwestern Medical CenterStarted 2018-03-01
Magnetic Resonance Imaging

External Resources

Links to major genomics databases and tools