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NDP norrin cystine knot growth factor NDP

Gene ID: 4693, updated on 23-Jan-2022
Gene type: protein coding
Also known as: ND; EVR2; FEVR

Summary

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Atrophia bulborum hereditaria
MedGen: C0266526OMIM: 310600GeneReviews: Not available
See labs
Familial exudative vitreoretinopathy, X-linked
MedGen: C1844579OMIM: 305390GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-06-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-06-14)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xp11.3
Sequence:
Chromosome: X; NC_000023.11 (43948776..43973390, complement)
Total number of exons:
3

Links

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