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 |
|---|---|---|---|
| RS2466713909 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2466926997 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2469145265 | Health Risk | Likely pathogenic | Heart defect - tongue hamartoma - polysyndactyly syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS2469249675 | Health Risk | Likely pathogenic | Heart defect - tongue hamartoma - polysyndactyly syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS749286148 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15 |
| RS763299856 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS765356177 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15 |
| RS767481770 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS768036084 | Health Risk | Likely pathogenic | WDPCP-related disorder, WDPCP-related disorder |
| RS776267465 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS959923850 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1281918775 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1292684996 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1449433208 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1558542714 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS1673664656 | Health Risk | Pathogenic | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 15 |
| RS1681413798 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS182144885 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Inborn genetic diseases, WDPCP-related disorder |
| RS2103953112 | Health Risk | Pathogenic | Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS2103954534 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2104771725 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2466511500 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2466930630 | Health Risk | Pathogenic | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 15 |
| RS2467524698 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2468556289 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS397704728 | Health Risk | Pathogenic | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 15 |
| RS727503781 | Health Risk | Pathogenic | Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS749464972 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS763507671 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS772536466 | Health Risk | Pathogenic | Bardet-Biedl syndrome, WDPCP-related disorder, Bardet-Biedl syndrome |
| RS776780491 | Health Risk | Pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS894887380 | Health Risk | Pathogenic | Bardet-Biedl syndrome, WDPCP-related disorder, Bardet-Biedl syndrome |
| RS1575420160 | Health Risk | Pathogenic/Likely pathogenic | Orofaciodigital syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Orofaciodigital syndrome |
| RS1694365826 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2105466704 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS2105500878 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS766056004 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome, WDPCP-related disorder, Heart defect - tongue hamartoma - polysyndactyly syndrome |
| RS267606692 | Health Risk | risk factor | Bardet-Biedl syndrome 12, modifier of, Bardet-Biedl syndrome 12 |
| RS267606693 | Health Risk | risk factor | Meckel syndrome, type 6, modifier of |