{
  "url": "https://dantelabs.com/sv/genes/thsd1",
  "gene": {
    "slug": "thsd1",
    "symbol": "THSD1",
    "name": "thrombospondin type 1 domain containing 1",
    "hgnc": "HGNC:17754",
    "summary": null,
    "location": "13q14.3",
    "locusType": "gene with protein product",
    "aliases": [
      "TMTSP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000136114",
    "entrezId": 55901,
    "omim": [
      "616821"
    ],
    "uniprot": [
      "Q9NS62"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 52377167,
      "end": 52406172,
      "strand": "-",
      "ensemblTranscript": "ENST00000258613.5",
      "refseqTranscript": "NM_018676.4",
      "ensemblProtein": "ENSP00000258613.4",
      "refseqProtein": "NP_061146.1",
      "exons": [
        {
          "start": 52377167,
          "end": 52378789
        },
        {
          "start": 52386028,
          "end": 52386186
        },
        {
          "start": 52397232,
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        {
          "start": 52402543,
          "end": 52402681
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        {
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        }
      ],
      "cds": {
        "start": 52377411,
        "end": 52402600
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 52951305,
      "end": 52980629,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 51891670,
      "end": 52891669,
      "genes": [
        {
          "symbol": "ATP7B",
          "ensemblId": "ENSG00000123191",
          "biotype": "protein_coding",
          "start": 51930436,
          "end": 52012198,
          "strand": "-",
          "slug": "atp7b"
        },
        {
          "symbol": "ALG11",
          "ensemblId": "ENSG00000253710",
          "biotype": "protein_coding",
          "start": 52011712,
          "end": 52079232,
          "strand": "+",
          "slug": "alg11"
        },
        {
          "symbol": "UTP14C",
          "ensemblId": "ENSG00000253797",
          "biotype": "protein_coding",
          "start": 52024691,
          "end": 52034196,
          "strand": "+",
          "slug": "utp14c"
        },
        {
          "symbol": "NEK5",
          "ensemblId": "ENSG00000197168",
          "biotype": "protein_coding",
          "start": 52033611,
          "end": 52129094,
          "strand": "-",
          "slug": "nek5"
        },
        {
          "symbol": "NEK3",
          "ensemblId": "ENSG00000136098",
          "biotype": "protein_coding",
          "start": 52130733,
          "end": 52159855,
          "strand": "-",
          "slug": "nek3"
        },
        {
          "symbol": "VPS36",
          "ensemblId": "ENSG00000136100",
          "biotype": "protein_coding",
          "start": 52411117,
          "end": 52450688,
          "strand": "-",
          "slug": "vps36"
        },
        {
          "symbol": "CKAP2",
          "ensemblId": "ENSG00000136108",
          "biotype": "protein_coding",
          "start": 52455429,
          "end": 52476640,
          "strand": "+",
          "slug": "ckap2"
        },
        {
          "symbol": "HNRNPA1L2",
          "ensemblId": "ENSG00000139675",
          "biotype": "protein_coding",
          "start": 52642431,
          "end": 52643773,
          "strand": "+",
          "slug": "hnrnpa1l2"
        },
        {
          "symbol": "SUGT1",
          "ensemblId": "ENSG00000165416",
          "biotype": "protein_coding",
          "start": 52652447,
          "end": 52700909,
          "strand": "+",
          "slug": "sugt1"
        },
        {
          "symbol": "CNMD",
          "ensemblId": "ENSG00000136110",
          "biotype": "protein_coding",
          "start": 52703198,
          "end": 52740142,
          "strand": "-",
          "slug": "cnmd"
        },
        {
          "symbol": "PCDH8",
          "ensemblId": "ENSG00000136099",
          "biotype": "protein_coding",
          "start": 52842889,
          "end": 52848641,
          "strand": "-",
          "slug": "pcdh8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intracranial-berry-aneurysm",
        "name": "Intrakraniell sackformig aneurysm",
        "diseases": [
          {
            "mondoId": "MONDO:0016483",
            "name": "Intrakraniell sackformig aneurysm",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "En intrakraniell aneurysm med en karakteristisk rund form; den vanligaste formen av hjärnaneurysm.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/intracranial-berry-aneurysm"
      },
      {
        "slug": "primary-lymphoedema-lymphatic-malformations",
        "name": "Primär lymfödem och lymfatiska missbildningar",
        "diseases": [
          {
            "mondoId": "MONDO:0859379",
            "name": "Lymfatisk missbildning 13",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "En sällsynt ärftlig form av primärt lymfödem.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/primary-lymphoedema-lymphatic-malformations"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circle-of-willis-morphology",
        "name": "Abnormal circle of Willis morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circle-of-willis-morphology"
      },
      {
        "slug": "abnormal-brainstem-morphology",
        "name": "Abnormal shape of brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "arterial-fibromuscular-dysplasia",
        "name": "Arterial fibromuscular dysplasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arterial-fibromuscular-dysplasia"
      },
      {
        "slug": "intracranial-hemorrhage",
        "name": "Bleeding within the skull",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intracranial-hemorrhage"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "cerebral-berry-aneurysm",
        "name": "Cerebral berry aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-berry-aneurysm"
      },
      {
        "slug": "chronic-lung-disease",
        "name": "Chronic lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-lung-disease"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "cavernous-hemangioma",
        "name": "Collection of dilated blood vessels that forms mass",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cavernous-hemangioma"
      },
      {
        "slug": "unilateral-deafness",
        "name": "Deafness in one ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/unilateral-deafness"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "encephalomalacia",
        "name": "Encephalomalacia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalomalacia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fetal-pleural-effusion",
        "name": "Fetal pleural effusion",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fetal-pleural-effusion"
      },
      {
        "slug": "fusiform-cerebral-aneurysm",
        "name": "Fusiform cerebral aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fusiform-cerebral-aneurysm"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hydrocele-testis",
        "name": "Hydrocele testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydrocele-testis"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "internal-carotid-artery-dissection",
        "name": "Internal carotid artery dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/internal-carotid-artery-dissection"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/transient-ischemic-attack"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "atherosclerosis",
        "name": "Narrowing and hardening of arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atherosclerosis"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "oculomotor-nerve-palsy",
        "name": "Oculomotor nerve palsy",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oculomotor-nerve-palsy"
      },
      {
        "slug": "single-umbilical-artery",
        "name": "Only one artery in umbilical cord instead of two",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/single-umbilical-artery"
      },
      {
        "slug": "visual-field-defect",
        "name": "Partial loss of field of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-field-defect"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "retinopathy-of-prematurity",
        "name": "Retinopathy of prematurity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinopathy-of-prematurity"
      },
      {
        "slug": "smooth-philtrum",
        "name": "Smooth philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/smooth-philtrum"
      },
      {
        "slug": "hemangioma",
        "name": "Strawberry mark",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hemangioma"
      },
      {
        "slug": "subarachnoid-hemorrhage",
        "name": "Subarachnoid hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage"
      },
      {
        "slug": "aortic-dissection",
        "name": "Tear in inner wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-dissection"
      },
      {
        "slug": "hemiparesis",
        "name": "Weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiparesis"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}