{
  "url": "https://dantelabs.com/el/genes/nptx1",
  "gene": {
    "slug": "nptx1",
    "symbol": "NPTX1",
    "name": "neuronal pentraxin 1",
    "hgnc": "HGNC:7952",
    "summary": null,
    "location": "17q25.3",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000171246",
    "entrezId": 4884,
    "omim": [
      "602367"
    ],
    "uniprot": [
      "Q15818"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 80466834,
      "end": 80476607,
      "strand": "-",
      "ensemblTranscript": "ENST00000306773.5",
      "refseqTranscript": "NM_002522.4",
      "ensemblProtein": "ENSP00000307549.4",
      "refseqProtein": "NP_002513.2",
      "exons": [
        {
          "start": 80466834,
          "end": 80471034
        },
        {
          "start": 80471732,
          "end": 80471911
        },
        {
          "start": 80473200,
          "end": 80473444
        },
        {
          "start": 80475511,
          "end": 80475718
        },
        {
          "start": 80476003,
          "end": 80476607
        }
      ],
      "cds": {
        "start": 80470813,
        "end": 80476446
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 78440948,
      "end": 78451643,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 79971721,
      "end": 80971720,
      "genes": [
        {
          "symbol": "TBC1D16",
          "ensemblId": "ENSG00000167291",
          "biotype": "protein_coding",
          "start": 79932343,
          "end": 80035887,
          "strand": "-",
          "slug": "tbc1d16"
        },
        {
          "symbol": "CCDC40",
          "ensemblId": "ENSG00000141519",
          "biotype": "protein_coding",
          "start": 80036000,
          "end": 80100613,
          "strand": "+",
          "slug": "ccdc40"
        },
        {
          "symbol": "GAA",
          "ensemblId": "ENSG00000171298",
          "biotype": "protein_coding",
          "start": 80101526,
          "end": 80119881,
          "strand": "+",
          "slug": "gaa"
        },
        {
          "symbol": "EIF4A3",
          "ensemblId": "ENSG00000141543",
          "biotype": "protein_coding",
          "start": 80132700,
          "end": 80147151,
          "strand": "-",
          "slug": "eif4a3"
        },
        {
          "symbol": "CARD14",
          "ensemblId": "ENSG00000141527",
          "biotype": "protein_coding",
          "start": 80169992,
          "end": 80216073,
          "strand": "+",
          "slug": "card14"
        },
        {
          "symbol": "SGSH",
          "ensemblId": "ENSG00000181523",
          "biotype": "protein_coding",
          "start": 80206716,
          "end": 80220928,
          "strand": "-",
          "slug": "sgsh"
        },
        {
          "symbol": "SLC26A11",
          "ensemblId": "ENSG00000181045",
          "biotype": "protein_coding",
          "start": 80219699,
          "end": 80253509,
          "strand": "+",
          "slug": "slc26a11"
        },
        {
          "symbol": "RNF213",
          "ensemblId": "ENSG00000173821",
          "biotype": "protein_coding",
          "start": 80260807,
          "end": 80398794,
          "strand": "+",
          "slug": "rnf213"
        },
        {
          "symbol": "ENDOV",
          "ensemblId": "ENSG00000173818",
          "biotype": "protein_coding",
          "start": 80415147,
          "end": 80438086,
          "strand": "+",
          "slug": "endov"
        },
        {
          "symbol": "RPTOR",
          "ensemblId": "ENSG00000141564",
          "biotype": "protein_coding",
          "start": 80544819,
          "end": 80966371,
          "strand": "+",
          "slug": "rptor"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289764",
          "biotype": "protein_coding",
          "start": 80545075,
          "end": 80545134,
          "strand": "+"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-dominant-cerebellar-ataxias",
        "name": "Αυτοσωμικά επικρατείς εγκεφαλελλειμματικές αταξίες (SCAs και DRPLA)",
        "diseases": [
          {
            "mondoId": "MONDO:0020380",
            "name": "Αυτοσωμικά επικρατής εγκεφαλελλειμματική αταξία",
            "genes": 36,
            "inheritance": "autosomal-dominant",
            "description": "Μια ομάδα επικρατώς κληρονομούμενων αταξιών, μεταξύ των οποίων οι SCA1, SCA2, SCA3 (νόσος Machado-Joseph), SCA6, SCA7, SCA17, SCA27B και DRPLA, που προκαλούνται από επεκτάσεις επαναλήψεων ή σημειακές μεταλλάξεις σε γονίδια όπως τα ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 και FGF14.",
            "management": "Γενετική συμβουλευτική και προσυμπτωματικός έλεγχος για συγγενείς, φυσιοθεραπεία και αντιμετώπιση των συμπτωμάτων· ορισμένες μορφές, όπως η SCA27B, ενδέχεται να ανταποκρίνονται σε συγκεκριμένη φαρμακευτική αγωγή.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/autosomal-dominant-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "action-tremor",
        "name": "Action tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/action-tremor"
      },
      {
        "slug": "apraxia",
        "name": "Apraxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apraxia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "froment-sign",
        "name": "Froment sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/froment-sign"
      },
      {
        "slug": "head-tremor",
        "name": "Head tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/head-tremor"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "impaired-executive-functioning",
        "name": "Impaired executive functioning",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-executive-functioning"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postural-tremor"
      }
    ],
    "related": [
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/afg3l2"
      },
      {
        "slug": "atn1",
        "symbol": "ATN1",
        "name": "atrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atn1"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp1a3"
      },
      {
        "slug": "atxn1",
        "symbol": "ATXN1",
        "name": "ataxin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atxn1"
      },
      {
        "slug": "atxn10",
        "symbol": "ATXN10",
        "name": "ataxin 10",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atxn10"
      },
      {
        "slug": "atxn2",
        "symbol": "ATXN2",
        "name": "ataxin 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atxn2"
      },
      {
        "slug": "atxn3",
        "symbol": "ATXN3",
        "name": "ataxin 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atxn3"
      },
      {
        "slug": "atxn7",
        "symbol": "ATXN7",
        "name": "ataxin 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atxn7"
      },
      {
        "slug": "bean1",
        "symbol": "BEAN1",
        "name": "brain expressed associated with NEDD4 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bean1"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cacna1a"
      },
      {
        "slug": "cacna1g",
        "symbol": "CACNA1G",
        "name": "calcium voltage-gated channel subunit alpha1 G",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cacna1g"
      },
      {
        "slug": "camta1",
        "symbol": "CAMTA1",
        "name": "calmodulin binding transcription activator 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/camta1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}