{
  "url": "https://dantelabs.com/el/genes/tdp1",
  "gene": {
    "slug": "tdp1",
    "symbol": "TDP1",
    "name": "tyrosyl-DNA phosphodiesterase 1",
    "hgnc": "HGNC:18884",
    "summary": null,
    "location": "14q32.11",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ11090",
      "SCAN1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000042088",
    "entrezId": 55775,
    "omim": [
      "607198"
    ],
    "uniprot": [
      "Q9NUW8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 89955927,
      "end": 90044764,
      "strand": "+",
      "ensemblTranscript": "ENST00000335725.9",
      "refseqTranscript": "NM_018319.4",
      "ensemblProtein": "ENSP00000337353.4",
      "refseqProtein": "NP_060789.2",
      "exons": [
        {
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          "end": 89955970
        },
        {
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        },
        {
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        },
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          "end": 89991983
        },
        {
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        },
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          "end": 90019418
        },
        {
          "start": 90033106,
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        },
        {
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          "end": 90044764
        }
      ],
      "cds": {
        "start": 89963115,
        "end": 90043143
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 90421283,
      "end": 90511106,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 89500346,
      "end": 90500345,
      "genes": [
        {
          "symbol": "FOXN3",
          "ensemblId": "ENSG00000053254",
          "biotype": "protein_coding",
          "start": 89124871,
          "end": 89619496,
          "strand": "-",
          "slug": "foxn3"
        },
        {
          "symbol": "EFCAB11",
          "ensemblId": "ENSG00000140025",
          "biotype": "protein_coding",
          "start": 89794669,
          "end": 89954777,
          "strand": "-",
          "slug": "efcab11"
        },
        {
          "symbol": "KCNK13",
          "ensemblId": "ENSG00000152315",
          "biotype": "protein_coding",
          "start": 90061990,
          "end": 90185855,
          "strand": "+",
          "slug": "kcnk13"
        },
        {
          "symbol": "PSMC1",
          "ensemblId": "ENSG00000100764",
          "biotype": "protein_coding",
          "start": 90256506,
          "end": 90275429,
          "strand": "+",
          "slug": "psmc1"
        },
        {
          "symbol": "NRDE2",
          "ensemblId": "ENSG00000119720",
          "biotype": "protein_coding",
          "start": 90267860,
          "end": 90332125,
          "strand": "-",
          "slug": "nrde2"
        },
        {
          "symbol": "CALM1",
          "ensemblId": "ENSG00000198668",
          "biotype": "protein_coding",
          "start": 90396502,
          "end": 90408268,
          "strand": "+",
          "slug": "calm1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dna-repair-disease",
        "name": "Νόσος Επιδιόρθωσης του DNA",
        "diseases": [
          {
            "mondoId": "MONDO:0021190",
            "name": "Νόσος Επιδιόρθωσης του DNA",
            "genes": 43,
            "inheritance": "autosomal-recessive",
            "description": "Νόσος που έχει ως βάση τη διαταραχή της επιδιόρθωσης του DNA.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/dna-repair-disease"
      },
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Αυτοσωμικές υπολειπόμενες cerebellar αταξίες (συμπεριλαμβανομένων των CANVAS και AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Αυτοσωμική υπολειπόμενη cerebellar αταξία",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "Μια ομάδα υπολειπόμενα κληρονομούμενων αταξιών που προκαλούνται από διαλληλικές μεταβολές σε γονίδια όπως τα RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 και SYNE1.",
            "management": "Η αταξία με ανεπάρκεια βιταμίνης Ε (TTPA) αντιμετωπίζεται με συμπληρώματα βιταμίνης Ε· οι άλλες μορφές διαχειρίζονται με φυσιοθεραπεία και φροντίδα των συμπτωμάτων, και στους συγγενείς μπορεί να προσφερθεί έλεγχος φορέα.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "decreased-number-of-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-number-of-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "gaze-evoked-nystagmus",
        "name": "Gaze-evoked nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impaired-distal-proprioception",
        "name": "Impaired distal proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-proprioception"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "pain-insensitivity",
        "name": "Pain insensitivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pain-insensitivity"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "spastic-dysarthria",
        "name": "Spastic dysarthria",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-dysarthria"
      },
      {
        "slug": "spinocerebellar-tract-degeneration",
        "name": "Spinocerebellar tract degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinocerebellar-tract-degeneration"
      }
    ],
    "related": [
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/coa7"
      },
      {
        "slug": "setx",
        "symbol": "SETX",
        "name": "senataxin",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/setx"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ahi1"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ano10"
      },
      {
        "slug": "aptx",
        "symbol": "APTX",
        "name": "aprataxin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aptx"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atg7"
      },
      {
        "slug": "atp8a2",
        "symbol": "ATP8A2",
        "name": "ATPase phospholipid transporting 8A2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp8a2"
      },
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "name": "BRCA1 DNA repair associated",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "name": "BRCA2 DNA repair associated",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "name": "BRCA1 interacting DNA helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/brip1"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ca8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}