WDPCP Chromosome 2
WD repeat containing planar cell polarity effector
Upload your DNA to see your personal genotypes for variants in WDPCP.
What This Gene Does
This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Ciliogenesis and planar polarity effector complex subunits
Locus Type
gene with protein product
Location
2p15
Ensembl
ENSG00000143951
Associated Conditions (12)
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome
WDPCP-related disorder
Heart defect - tongue hamartoma - polysyndactyly syndrome
Orofaciodigital syndrome
Melanoma
Inborn genetic diseases
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 12
modifier of
Meckel syndrome
type 6
Key Variants
RS1252079324
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, WDPCP-related disorder
Health Risk
RS141011629
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome
Health Risk
RS144703991
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
Health Risk
RS1697219158
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15
Health Risk
RS182759221
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
Health Risk
RS185980830
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
Health Risk
RS191796211
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome
Health Risk
RS192196713
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder
Health Risk
RS199676595
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder
Health Risk
RS199959383
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
Health Risk
RS200170138
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder
Health Risk
RS200322968
Conflicting classifications of pathogenicity
Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome, Orofaciodigital syndrome
Health Risk
All Variants (89)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1252079324 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, WDPCP-related disorder |
| RS141011629 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS144703991 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome |
| RS1697219158 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15 |
| RS182759221 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Bardet-Biedl syndrome 15 |
| RS185980830 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Bardet-Biedl syndrome 15 |
| RS191796211 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS192196713 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder |
| RS199676595 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder |
| RS199959383 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome |
| RS200170138 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder |
| RS200322968 | Health Risk | Conflicting classifications of pathogenicity | Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome, Orofaciodigital syndrome |
| RS200378703 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Inborn genetic diseases |
| RS201607698 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Bardet-Biedl syndrome 15 |
| RS201844706 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder |
| RS202196322 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15 |
| RS202221613 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Bardet-Biedl syndrome 15 |
| RS367727948 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder |
| RS368933340 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, WDPCP-related disorder, Inborn genetic diseases |
| RS371090606 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder |
| RS372538263 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome |
| RS373387599 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome |
| RS374934704 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder |
| RS375693256 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, WDPCP-related disorder |
| RS376164426 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, WDPCP-related disorder |
| RS534102944 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS544657165 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome |
| RS559429215 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS571641878 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, WDPCP-related disorder |
| RS572858289 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome |
| RS746225322 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Bardet-Biedl syndrome 15 |
| RS746261282 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Bardet-Biedl syndrome 15 |
| RS750924240 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15 |
| RS753480088 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, WDPCP-related disorder, Inborn genetic diseases |
| RS757449444 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome |
| RS758621800 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome, Inborn genetic diseases |
| RS761312526 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15 |
| RS763789574 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, WDPCP-related disorder, Inborn genetic diseases |
| RS764847886 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS766136478 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, WDPCP-related disorder, Bardet-Biedl syndrome 15 |
| RS768802269 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, WDPCP-related disorder |
| RS769180655 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, WDPCP-related disorder, Bardet-Biedl syndrome 15 |
| RS774816454 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, WDPCP-related disorder, Bardet-Biedl syndrome 15 |
| RS774995085 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, WDPCP-related disorder |
| RS776917693 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Inborn genetic diseases, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS777055382 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15 |
| RS1177318115 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1486299333 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1700584499 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 15 |
| RS2104772718 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |