WNT7B Chromosome 22
Wnt family member 7B
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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. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Wnt family
Locus Type
gene with protein product
Location
22q13.31
Ensembl
ENSG00000188064
Associated Conditions (3)
Anophthalmia-microphthalmia syndrome
Matthew-Wood syndrome
See cases
Key Variants
RS1475762618
Likely pathogenic
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS1158594747
Pathogenic
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
RS1569119395
Pathogenic
Matthew-Wood syndrome, See cases, Matthew-Wood syndrome
Health Risk
RS2146732713
Pathogenic
Matthew-Wood syndrome, Matthew-Wood syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1475762618 | Health Risk | Likely pathogenic | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS1158594747 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS1569119395 | Health Risk | Pathogenic | Matthew-Wood syndrome, See cases, Matthew-Wood syndrome |
| RS2146732713 | Health Risk | Pathogenic | Matthew-Wood syndrome, Matthew-Wood syndrome |