WNT7A
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
WNT7A (HGNC:12786) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Wnt family member 7A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
Wnt-7a
%HI
20.9(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.81(Read more about gnomAD LOEUF score)
Cytoband
3p25.1
Genomic Coordinates
GRCh37/hg19: chr3:13857755-13921568 NCBI Ensembl UCSC
GRCh38/hg38: chr3:13816258-13880071 NCBI Ensembl UCSC
MANE Select Transcript
NM_004625.4 ENST00000285018.5 (Read more about MANE Select)
Function
Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta- catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development (PubMed:16826533). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Required for normal, sexually dimorphic ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21964
ClinGen Curation ID:
CCID:008111
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • non-syndromic limb reduction defect Monarch
HI Evidence Comments:
Biallelic variants in the WNT7A gene have been associated with the diseases Fuhrmann syndrome and Ulna and fibula, absence of, with severe limb deficiency in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, non-syndromic limb reduction defect MONDO:0019713, has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)