Gene: DVL1

Alternate names for this Gene: DRS2|DVL|DVL1L1|DVL1P1

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.33

Description of this Gene: dishevelled segment polarity protein 1

Type of Gene: protein-coding

rs1553173425 in DVL1 gene and Multiple congenital anomalies PMID 17256787 2007 Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

PMID 25817014 2015 Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

PMID 25817016 2015 DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

rs797044833 in DVL1 gene and ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 PMID 25817016 2015 DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

PMID 29276006 2018 WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

PMID 26924530 2016 DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

rs307359 in DVL1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.