WNT5A Chromosome 3
Wnt family member 5A
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What This Gene Does
The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Wnt family
Locus Type
gene with protein product
Location
3p14.3
Ensembl
ENSG00000114251
Associated Conditions (4)
Autosomal dominant Robinow syndrome 1
WNT5A-related disorder
Familial cancer of breast
Inborn genetic diseases
Key Variants
RS1231823028
Conflicting classifications of pathogenicity
Health Risk
RS139616809
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
Health Risk
RS1553677967
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
Health Risk
RS181894008
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1, WNT5A-related disorder
Health Risk
RS188798140
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 1, Familial cancer of breast, Autosomal dominant Robinow syndrome 1
Health Risk
RS200583587
Conflicting classifications of pathogenicity
Health Risk
RS2106955417
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
Health Risk
RS369701725
Conflicting classifications of pathogenicity
Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
Health Risk
RS370383438
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371576999
Conflicting classifications of pathogenicity
Health Risk
RS375233428
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376640377
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1231823028 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139616809 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS1553677967 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS181894008 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1, WNT5A-related disorder |
| RS188798140 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Familial cancer of breast, Autosomal dominant Robinow syndrome 1 |
| RS200583587 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2106955417 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS369701725 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS370383438 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371576999 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375233428 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376640377 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS554762368 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Inborn genetic diseases, Autosomal dominant Robinow syndrome 1 |
| RS587784562 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS6790979 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS755916316 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS761851847 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS946840827 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS998033323 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553677971 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS2051221341 | Health Risk | Likely pathogenic | — |
| RS2106946273 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS387906663 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS786200925 | Health Risk | Likely pathogenic | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS786204836 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |
| RS786204837 | Health Risk | Pathogenic | Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1 |