{
  "url": "https://dantelabs.com/nl/genes/lrit3",
  "gene": {
    "slug": "lrit3",
    "symbol": "LRIT3",
    "name": "leucine rich repeat, Ig-like and transmembrane domains 3",
    "hgnc": "HGNC:24783",
    "summary": null,
    "location": "4q25",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ44691",
      "FIGLER4",
      "CSNB1F"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000183423",
    "entrezId": 345193,
    "omim": [
      "615004"
    ],
    "uniprot": [
      "Q3SXY7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 109848107,
      "end": 109872315,
      "strand": "+",
      "ensemblTranscript": "ENST00000594814.6",
      "refseqTranscript": "NM_198506.5",
      "ensemblProtein": "ENSP00000469759.1",
      "refseqProtein": "NP_940908.3",
      "exons": [
        {
          "start": 109848107,
          "end": 109848317
        },
        {
          "start": 109851504,
          "end": 109851976
        },
        {
          "start": 109867641,
          "end": 109867946
        },
        {
          "start": 109869645,
          "end": 109872315
        }
      ],
      "cds": {
        "start": 109848202,
        "end": 109870789
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 110769358,
      "end": 110793471,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 109360211,
      "end": 110360210,
      "genes": [
        {
          "symbol": "SEC24B",
          "ensemblId": "ENSG00000138802",
          "biotype": "protein_coding",
          "start": 109433602,
          "end": 109540896,
          "strand": "+",
          "slug": "sec24b"
        },
        {
          "symbol": "MCUB",
          "ensemblId": "ENSG00000005059",
          "biotype": "protein_coding",
          "start": 109560209,
          "end": 109688799,
          "strand": "+",
          "slug": "mcub"
        },
        {
          "symbol": "CASP6",
          "ensemblId": "ENSG00000138794",
          "biotype": "protein_coding",
          "start": 109685837,
          "end": 109703583,
          "strand": "-",
          "slug": "casp6"
        },
        {
          "symbol": "PLA2G12A",
          "ensemblId": "ENSG00000123739",
          "biotype": "protein_coding",
          "start": 109709765,
          "end": 109730070,
          "strand": "-",
          "slug": "pla2g12a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285330",
          "biotype": "protein_coding",
          "start": 109713916,
          "end": 109801999,
          "strand": "-"
        },
        {
          "symbol": "CFI",
          "ensemblId": "ENSG00000205403",
          "biotype": "protein_coding",
          "start": 109730868,
          "end": 109802200,
          "strand": "-",
          "slug": "cfi"
        },
        {
          "symbol": "GAR1",
          "ensemblId": "ENSG00000109534",
          "biotype": "protein_coding",
          "start": 109815476,
          "end": 109827320,
          "strand": "+",
          "slug": "gar1"
        },
        {
          "symbol": "RRH",
          "ensemblId": "ENSG00000180245",
          "biotype": "protein_coding",
          "start": 109827972,
          "end": 109849123,
          "strand": "+",
          "slug": "rrh"
        },
        {
          "symbol": "EGF",
          "ensemblId": "ENSG00000138798",
          "biotype": "protein_coding",
          "start": 109912878,
          "end": 110013948,
          "strand": "+",
          "slug": "egf"
        },
        {
          "symbol": "ELOVL6",
          "ensemblId": "ENSG00000170522",
          "biotype": "protein_coding",
          "start": 110045846,
          "end": 110199205,
          "strand": "-",
          "slug": "elovl6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-stationary-night-blindness",
        "name": "Congenitale stationaire nachtblindheid",
        "diseases": [
          {
            "mondoId": "MONDO:0016293",
            "name": "Congenitale stationaire nachtblindheid",
            "genes": 16,
            "inheritance": null,
            "description": "Een groep netvliesaandoeningen die meestal niet progressief zijn, waaronder de ziekte van Oguchi, veroorzaakt door veranderingen in genen zoals NYX, CACNA1F, TRPM1, GRM6, GPR179 en SAG, vaak met nystagmus of kortzichtigheid.",
            "management": "Een genetische diagnose verklaart de klachten, helpt de aandoening te onderscheiden van progressieve netvliesziekten en geeft richting aan erfelijkheidsadvies voor de familie.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/congenital-stationary-night-blindness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "erg-reduced-dark-adapted-b-wave-amplitude",
        "name": "ERG: Reduced dark-adapted b-wave amplitude",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erg-reduced-dark-adapted-b-wave-amplitude"
      },
      {
        "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": "retinal-perforation",
        "name": "Retinal tear",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-perforation"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-myopia"
      }
    ],
    "related": [
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "name": "calcium binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cabp4"
      },
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/cacna1f"
      },
      {
        "slug": "gnat1",
        "symbol": "GNAT1",
        "name": "G protein subunit alpha transducin 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gnat1"
      },
      {
        "slug": "gnb3",
        "symbol": "GNB3",
        "name": "G protein subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gnb3"
      },
      {
        "slug": "gpr179",
        "symbol": "GPR179",
        "name": "G protein-coupled receptor 179",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gpr179"
      },
      {
        "slug": "grk1",
        "symbol": "GRK1",
        "name": "G protein-coupled receptor kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/grk1"
      },
      {
        "slug": "grm6",
        "symbol": "GRM6",
        "name": "glutamate metabotropic receptor 6",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/grm6"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "name": "guanylate cyclase 2D, retinal",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gucy2d"
      },
      {
        "slug": "nyx",
        "symbol": "NYX",
        "name": "nyctalopin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/nyx"
      },
      {
        "slug": "pde6b",
        "symbol": "PDE6B",
        "name": "phosphodiesterase 6B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/pde6b"
      },
      {
        "slug": "rho",
        "symbol": "RHO",
        "name": "rhodopsin",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/rho"
      },
      {
        "slug": "rims2",
        "symbol": "RIMS2",
        "name": "regulating synaptic membrane exocytosis 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/rims2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}