DVL3

Chr 3AD

dishevelled segment polarity protein 3

Also known as: DRS3

NCBI Gene: 1857 ENSG00000161202 UniProt: Q92997 OMIM: 601368

The protein is involved in Wnt signaling pathways that regulate cell proliferation and development. Mutations cause autosomal dominant Robinow syndrome type 3, characterized by distinctive facial features, short stature, and skeletal abnormalities. The gene shows high constraint against loss-of-function variants (LOEUF 0.422), suggesting intolerance to protein disruption.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Robinow syndrome, autosomal dominant 3MIM #616894

Clinical highlights

Interpreting a novel variant

A dominant-negative effect 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

0.42

LOEUF

Mechanism· G2P

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GeneReview available — DVL3

Authoritative clinical overview · Recommended first read