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DYT4

dystonia 4, torsion (autosomal dominant)

NCBI Gene: 1864

The protein function for DYT4 is not well characterized, as this locus has been mapped but the causative gene has not been definitively identified. Mutations cause autosomal dominant torsion dystonia with childhood to adolescent onset, typically presenting as focal dystonia that may generalize. This form of dystonia shows variable expressivity and reduced penetrance within affected families.

GeneReviews ResearchSummary from OMIM

GeneReviews ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· G2P

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GeneReview available — DYT4