NYX

Chr XXLR

nyctalopin

Also known as: CLRP, CSNB1, CSNB1A, CSNB4, NBM1

NCBI Gene: 60506 ENSG00000188937 UniProt: Q9GZU5 OMIM: 300278

NYX encodes a small leucine-rich proteoglycan that functions as a scaffold for TRPM1 and GRM6 proteins and is required for TRPM1 trafficking to dendritic tips of ON-bipolar cells in the retina. Mutations cause X-linked congenital stationary night blindness type 1A, characterized by impaired night vision, nystagmus, myopia or hyperopia, and reduced visual acuity. This follows X-linked recessive inheritance, affecting primarily males with carrier females potentially having mild symptoms.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Night blindness, congenital stationary (complete), 1A, X-linkedMIM #310500

XLR

Clinical highlights

Gene-disease validity (ClinGen)

NYX-related retinopathy · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.13

LOEUF

LOF*

Mechanism· G2P

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GeneReview available — NYX