DVL1 Chromosome 1
Dishevelled segment polarity protein 1
Upload your DNA to see your personal genotypes for variants in DVL1.
What This Gene Does
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]
Gene Info
Gene Group
"Dishevelled segment polarity proteins|PDZ domain containing|MicroRNA protein coding host genes|DEP domain containing"
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000107404
Associated Conditions (7)
Inborn genetic diseases
Autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 1
Familial pancreatic carcinoma
Ovarian serous cystadenocarcinoma
DVL1-related disorder
Gastric cancer
Key Variants
RS1158843179
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1336850278
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1363396787
Conflicting classifications of pathogenicity
Health Risk
RS1412879227
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142476987
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal dominant Robinow syndrome 2, Inborn genetic diseases
Health Risk
RS142925511
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 1, Inborn genetic diseases, Familial pancreatic carcinoma
Health Risk
RS143283367
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
Health Risk
RS143613619
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144499639
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146637134
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148148529
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149964617
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553173367 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS1553173368 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS1553173372 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS1643642110 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS1643857128 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS2100704859 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS1553173425 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569684523 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS1643645439 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS2100714986 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS779477027 | Health Risk | Pathogenic | — |
| RS797044833 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS797044834 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS797044835 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS797044836 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS797044837 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS797044838 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS797044839 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 2 |
| RS797044840 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS869025220 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |
| RS1553173420 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2 |