NDP

Chr XXLDXLR

norrin cystine knot growth factor NDP

Also known as: EVR2, FEVR, ND

NCBI Gene: 4693 ENSG00000124479 UniProt: Q00604 OMIM: 300658

This gene encodes norrin, a secreted protein that activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptors and plays a central role in retinal vascularization. Mutations cause Norrie disease and X-linked exudative vitreoretinopathy, both affecting retinal development and vascular formation. The gene shows X-linked inheritance patterns.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Exudative vitreoretinopathy 2, X-linkedMIM #305390

XLDXLR

Norrie diseaseMIM #310600

XLR

UniProtVitreoretinopathy, exudative 2

Clinical highlights

Gene-disease validity (ClinGen)

Norrie disease · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

LOF

Mechanism· G2P

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GeneReview available — NDP