DVL1

Chr 1

dishevelled segment polarity protein 1

Also known as: DRS2, DVL, DVL1L1

NCBI Gene: 1855 ENSG00000107404 UniProt: O14640

DVL1 encodes a cytoplasmic phosphoprotein that participates in Wnt signaling pathways by binding to frizzled receptors and transducing signals to downstream effectors, and plays a role in neuromuscular junction formation through regulation of acetylcholine receptor clustering. Mutations cause autosomal dominant Robinow syndrome type 2, a skeletal dysplasia syndrome. The gene shows low constraint against loss-of-function variants (pLI near 0), suggesting tolerance to complete gene loss.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRobinow syndrome, autosomal dominant 2

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)

—

P/LP submissions

—

P/LP missense

0.73

LOEUF

GOF*

Mechanism· G2P

📖

GeneReview available — DVL1