{
  "url": "https://dantelabs.com/no/genes/nyx",
  "gene": {
    "slug": "nyx",
    "symbol": "NYX",
    "name": "nyctalopin",
    "hgnc": "HGNC:8082",
    "summary": null,
    "location": "Xp11.4",
    "locusType": "gene with protein product",
    "aliases": [
      "CLRP",
      "CSNB1A"
    ],
    "previousSymbols": [
      "CSNB1",
      "CSNB4"
    ],
    "ensemblId": "ENSG00000188937",
    "entrezId": 60506,
    "omim": [
      "300278"
    ],
    "uniprot": [
      "Q9GZU5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 41447343,
      "end": 41475652,
      "strand": "+",
      "ensemblTranscript": "ENST00000378220.3",
      "refseqTranscript": "NM_001378477.3",
      "ensemblProtein": "ENSP00000367465.2",
      "refseqProtein": "NP_001365406.2",
      "exons": [
        {
          "start": 41447343,
          "end": 41447516
        },
        {
          "start": 41447849,
          "end": 41447926
        },
        {
          "start": 41473491,
          "end": 41475652
        }
      ],
      "cds": {
        "start": 41447905,
        "end": 41474899
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 41306687,
      "end": 41334963,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 40961498,
      "end": 41961497,
      "genes": [
        {
          "symbol": "USP9X",
          "ensemblId": "ENSG00000124486",
          "biotype": "protein_coding",
          "start": 41085346,
          "end": 41236579,
          "strand": "+",
          "slug": "usp9x"
        },
        {
          "symbol": "DDX3X",
          "ensemblId": "ENSG00000215301",
          "biotype": "protein_coding",
          "start": 41333348,
          "end": 41364472,
          "strand": "+",
          "slug": "ddx3x"
        },
        {
          "symbol": "CASK",
          "ensemblId": "ENSG00000147044",
          "biotype": "protein_coding",
          "start": 41514934,
          "end": 41923684,
          "strand": "-",
          "slug": "cask"
        },
        {
          "symbol": "GPR34",
          "ensemblId": "ENSG00000171659",
          "biotype": "protein_coding",
          "start": 41688968,
          "end": 41699620,
          "strand": "+",
          "slug": "gpr34"
        },
        {
          "symbol": "GPR82",
          "ensemblId": "ENSG00000171657",
          "biotype": "protein_coding",
          "start": 41724175,
          "end": 41730130,
          "strand": "+",
          "slug": "gpr82"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-stationary-night-blindness",
        "name": "Medfødt stasjonær nattblindhet",
        "diseases": [
          {
            "mondoId": "MONDO:0016293",
            "name": "Medfødt stasjonær nattblindhet",
            "genes": 16,
            "inheritance": null,
            "description": "En gruppe netthinnetilstander som for det meste ikke er progressive, inkludert Oguchis sykdom, forårsaket av endringer i gener som NYX, CACNA1F, TRPM1, GRM6, GPR179 og SAG, ofte med nystagmus eller nærsynthet.",
            "management": "En genetisk diagnose forklarer symptomene, hjelper med å skille tilstanden fra progressive netthinnesykdommer og gir grunnlag for familieveiledning.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/congenital-stationary-night-blindness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hemeralopia",
        "name": "Day blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hemeralopia"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/high-myopia"
      }
    ],
    "related": [
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "name": "calcium binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cabp4"
      },
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cacna1f"
      },
      {
        "slug": "gnat1",
        "symbol": "GNAT1",
        "name": "G protein subunit alpha transducin 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gnat1"
      },
      {
        "slug": "gnb3",
        "symbol": "GNB3",
        "name": "G protein subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gnb3"
      },
      {
        "slug": "gpr179",
        "symbol": "GPR179",
        "name": "G protein-coupled receptor 179",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gpr179"
      },
      {
        "slug": "grk1",
        "symbol": "GRK1",
        "name": "G protein-coupled receptor kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/grk1"
      },
      {
        "slug": "grm6",
        "symbol": "GRM6",
        "name": "glutamate metabotropic receptor 6",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/grm6"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "name": "guanylate cyclase 2D, retinal",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gucy2d"
      },
      {
        "slug": "lrit3",
        "symbol": "LRIT3",
        "name": "leucine rich repeat, Ig-like and transmembrane domains 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/lrit3"
      },
      {
        "slug": "pde6b",
        "symbol": "PDE6B",
        "name": "phosphodiesterase 6B",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/pde6b"
      },
      {
        "slug": "rho",
        "symbol": "RHO",
        "name": "rhodopsin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/rho"
      },
      {
        "slug": "rims2",
        "symbol": "RIMS2",
        "name": "regulating synaptic membrane exocytosis 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/rims2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}