WNT7A Chromosome 3
Wnt family member 7A
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What This Gene Does
This gene is a member of the WNT gene family, which consists of structurally related genes that 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 is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Wnt family
Locus Type
gene with protein product
Location
3p25.1
Ensembl
ENSG00000154764
Associated Conditions (5)
Santos syndrome
Fuhrmann syndrome
Schinzel phocomelia syndrome
WNT7A-related disorder
Inborn genetic diseases
Key Variants
RS140491601
Conflicting classifications of pathogenicity
Santos syndrome, Fuhrmann syndrome, Schinzel phocomelia syndrome
Health Risk
RS149363953
Conflicting classifications of pathogenicity
WNT7A-related disorder, WNT7A-related disorder
Health Risk
RS149962459
Conflicting classifications of pathogenicity
Health Risk
RS199592697
Conflicting classifications of pathogenicity
Fuhrmann syndrome, Fuhrmann syndrome
Health Risk
RS561275177
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS75651130
Conflicting classifications of pathogenicity
WNT7A-related disorder, WNT7A-related disorder
Health Risk
RS104893835
Likely pathogenic
Schinzel phocomelia syndrome, Schinzel phocomelia syndrome
Health Risk
RS104893832
Pathogenic
Fuhrmann syndrome, Fuhrmann syndrome
Health Risk
RS397514643
Pathogenic
Schinzel phocomelia syndrome, Schinzel phocomelia syndrome
Health Risk
RS397514666
Pathogenic
Schinzel phocomelia syndrome, Schinzel phocomelia syndrome
Health Risk
RS879255548
Pathogenic
Schinzel phocomelia syndrome, Schinzel phocomelia syndrome
Health Risk
RS387907231
Pathogenic/Likely pathogenic
Schinzel phocomelia syndrome, Fuhrmann syndrome, Schinzel phocomelia syndrome
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140491601 | Health Risk | Conflicting classifications of pathogenicity | Santos syndrome, Fuhrmann syndrome, Schinzel phocomelia syndrome |
| RS149363953 | Health Risk | Conflicting classifications of pathogenicity | WNT7A-related disorder, WNT7A-related disorder |
| RS149962459 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199592697 | Health Risk | Conflicting classifications of pathogenicity | Fuhrmann syndrome, Fuhrmann syndrome |
| RS561275177 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS75651130 | Health Risk | Conflicting classifications of pathogenicity | WNT7A-related disorder, WNT7A-related disorder |
| RS104893835 | Health Risk | Likely pathogenic | Schinzel phocomelia syndrome, Schinzel phocomelia syndrome |
| RS104893832 | Health Risk | Pathogenic | Fuhrmann syndrome, Fuhrmann syndrome |
| RS397514643 | Health Risk | Pathogenic | Schinzel phocomelia syndrome, Schinzel phocomelia syndrome |
| RS397514666 | Health Risk | Pathogenic | Schinzel phocomelia syndrome, Schinzel phocomelia syndrome |
| RS879255548 | Health Risk | Pathogenic | Schinzel phocomelia syndrome, Schinzel phocomelia syndrome |
| RS387907231 | Health Risk | Pathogenic/Likely pathogenic | Schinzel phocomelia syndrome, Fuhrmann syndrome, Schinzel phocomelia syndrome |