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} ], "truncated": false }, "reports": [ { "slug": "congenital-stationary-night-blindness", "name": "Cecità notturna congenita stazionaria", "diseases": [ { "mondoId": "MONDO:0016293", "name": "Cecità notturna congenita stazionaria", "genes": 16, "inheritance": null, "description": "Un gruppo di patologie retiniche in gran parte non progressive, tra cui la malattia di Oguchi, causate da alterazioni di geni come NYX, CACNA1F, TRPM1, GRM6, GPR179 e SAG, spesso con nistagmo o miopia.", "management": "Una diagnosi genetica spiega i sintomi, aiuta a distinguere la patologia da malattie retiniche progressive e orienta la consulenza familiare.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/it/conditions/congenital-stationary-night-blindness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "early-onset-non-progressive-night-blindness", "name": "Night blindness since birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness" }, { "slug": "high-myopia", "name": "Severe near sightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-myopia" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-impairment" } ], "related": [ { "slug": "cabp4", "symbol": "CABP4", "name": "calcium binding protein 4", "shared": 1, "url": "https://dantelabs.com/it/genes/cabp4" }, { "slug": "cacna1f", "symbol": "CACNA1F", "name": "calcium voltage-gated channel subunit alpha1 F", "shared": 1, "url": "https://dantelabs.com/it/genes/cacna1f" }, { "slug": "gnat1", "symbol": "GNAT1", "name": "G protein subunit alpha transducin 1", "shared": 1, "url": "https://dantelabs.com/it/genes/gnat1" }, { "slug": "gnb3", "symbol": "GNB3", "name": "G protein subunit beta 3", "shared": 1, "url": "https://dantelabs.com/it/genes/gnb3" }, { "slug": "grk1", "symbol": "GRK1", "name": "G protein-coupled receptor kinase 1", "shared": 1, "url": "https://dantelabs.com/it/genes/grk1" }, { "slug": "grm6", "symbol": "GRM6", "name": "glutamate metabotropic receptor 6", "shared": 1, "url": "https://dantelabs.com/it/genes/grm6" }, { "slug": "gucy2d", "symbol": "GUCY2D", "name": "guanylate cyclase 2D, retinal", "shared": 1, "url": "https://dantelabs.com/it/genes/gucy2d" }, { "slug": "lrit3", "symbol": "LRIT3", "name": "leucine rich repeat, Ig-like and transmembrane domains 3", "shared": 1, "url": "https://dantelabs.com/it/genes/lrit3" }, { "slug": "nyx", "symbol": "NYX", "name": "nyctalopin", "shared": 1, "url": "https://dantelabs.com/it/genes/nyx" }, { "slug": "pde6b", "symbol": "PDE6B", "name": "phosphodiesterase 6B", "shared": 1, "url": "https://dantelabs.com/it/genes/pde6b" }, { "slug": "rho", "symbol": "RHO", "name": "rhodopsin", "shared": 1, "url": "https://dantelabs.com/it/genes/rho" }, { "slug": "rims2", "symbol": "RIMS2", "name": "regulating synaptic membrane exocytosis 2", "shared": 1, "url": "https://dantelabs.com/it/genes/rims2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }