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WNT7B

Chr 22q13.31

Wnt family member 7B

MANE:
ENST00000339464.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Matthew-Wood syndrome

    0.59
  • Dupuytren Contracture

    0.48
  • palmar fibromatosis

    0.47
  • fasciitis

    0.46
  • myopia

    0.44
  • anophthalmia-microphthalmia syndrome

    0.44
  • frozen shoulder

    0.43
  • glaucoma

    0.43
  • fibroblastic disorder

    0.42
  • open-angle glaucoma

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein Wnt-7b

Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:30026314). Required for normal fusion of the chorion and the allantois during placenta development (By similarity). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.