{
  "url": "https://dantelabs.com/nl/genes/tshb",
  "gene": {
    "slug": "tshb",
    "symbol": "TSHB",
    "name": "thyroid stimulating hormone subunit beta",
    "hgnc": "HGNC:12372",
    "summary": null,
    "location": "1p13.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000134200",
    "entrezId": 7252,
    "omim": [
      "188540"
    ],
    "uniprot": [
      "P01222"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 115029826,
      "end": 115034302,
      "strand": "+",
      "ensemblTranscript": "ENST00000256592.3",
      "refseqTranscript": "NM_000549.5",
      "ensemblProtein": "ENSP00000256592.1",
      "refseqProtein": "NP_000540.2",
      "exons": [
        {
          "start": 115029826,
          "end": 115029860
        },
        {
          "start": 115033362,
          "end": 115033524
        },
        {
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        }
      ],
      "cds": {
        "start": 115033363,
        "end": 115034227
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 115572415,
      "end": 115576941,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 114532064,
      "end": 115532063,
      "genes": [
        {
          "symbol": "BCAS2",
          "ensemblId": "ENSG00000116752",
          "biotype": "protein_coding",
          "start": 114547043,
          "end": 114581725,
          "strand": "-",
          "slug": "bcas2"
        },
        {
          "symbol": "DENND2C",
          "ensemblId": "ENSG00000175984",
          "biotype": "protein_coding",
          "start": 114582848,
          "end": 114670451,
          "strand": "-",
          "slug": "dennd2c"
        },
        {
          "symbol": "AMPD1",
          "ensemblId": "ENSG00000116748",
          "biotype": "protein_coding",
          "start": 114673090,
          "end": 114695620,
          "strand": "-",
          "slug": "ampd1"
        },
        {
          "symbol": "NRAS",
          "ensemblId": "ENSG00000213281",
          "biotype": "protein_coding",
          "start": 114704468,
          "end": 114716775,
          "strand": "-",
          "slug": "nras"
        },
        {
          "symbol": "CSDE1",
          "ensemblId": "ENSG00000009307",
          "biotype": "protein_coding",
          "start": 114716913,
          "end": 114758704,
          "strand": "-",
          "slug": "csde1"
        },
        {
          "symbol": "SIKE1",
          "ensemblId": "ENSG00000052723",
          "biotype": "protein_coding",
          "start": 114769479,
          "end": 114780706,
          "strand": "-",
          "slug": "sike1"
        },
        {
          "symbol": "SYCP1",
          "ensemblId": "ENSG00000198765",
          "biotype": "protein_coding",
          "start": 114854836,
          "end": 114995370,
          "strand": "+",
          "slug": "sycp1"
        },
        {
          "symbol": "TSPAN2",
          "ensemblId": "ENSG00000134198",
          "biotype": "protein_coding",
          "start": 115047056,
          "end": 115089528,
          "strand": "-",
          "slug": "tspan2"
        },
        {
          "symbol": "NGF",
          "ensemblId": "ENSG00000134259",
          "biotype": "protein_coding",
          "start": 115285904,
          "end": 115338770,
          "strand": "-",
          "slug": "ngf"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-hypothyroidism",
        "name": "Congenitale hypothyreoïdie",
        "diseases": [
          {
            "mondoId": "MONDO:0018612",
            "name": "Congenitale hypothyreoïdie",
            "genes": 18,
            "inheritance": null,
            "description": "Een tekort aan schildklierhormoon dat al vanaf de geboorte aanwezig is.",
            "management": null,
            "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-hypothyroidism"
      },
      {
        "slug": "thyroid-cancer-report",
        "name": "Schildklierkanker",
        "diseases": [
          {
            "mondoId": "MONDO:0005420",
            "name": "Hypothyreoïdie",
            "genes": 18,
            "inheritance": null,
            "description": "Abnormaal lage spiegels van schildklierhormoon.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0003240",
            "name": "Aandoening van de schildklier",
            "genes": 21,
            "inheritance": null,
            "description": "Een ziekte die de schildklier aantast.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/thyroid-cancer-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-thyroglobulin-concentration",
        "name": "Abnormal circulating thyroglobulin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-thyroglobulin-concentration"
      },
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autoimmune-antibody-positivity",
        "name": "Autoimmune antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity"
      },
      {
        "slug": "large-sella-turcica",
        "name": "Big sella turcica",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-sella-turcica"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "decreased-circulating-t4-concentration",
        "name": "Decreased circulating T4 concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-t4-concentration"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "decreased-thyroid-stimulating-hormone-level",
        "name": "Decreased thyroid-stimulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-thyroid-stimulating-hormone-level"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-cranial-suture-closure",
        "name": "Delayed cranial suture closure",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-cranial-suture-closure"
      },
      {
        "slug": "delayed-proximal-femoral-epiphyseal-ossification",
        "name": "Delayed proximal femoral epiphyseal ossification",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-proximal-femoral-epiphyseal-ossification"
      },
      {
        "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": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "facial-edema",
        "name": "Facial puffiness",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-edema"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hoarse-cry",
        "name": "Hoarse cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoarse-cry"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "increased-circulating-prolactin-concentration",
        "name": "Increased circulating prolactin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-prolactin-concentration"
      },
      {
        "slug": "increased-pituitary-glycoprotein-hormone-alpha-subunit-level",
        "name": "Increased pituitary glycoprotein hormone alpha subunit level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-pituitary-glycoprotein-hormone-alpha-subunit-level"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "large-posterior-fontanelle",
        "name": "Large posterior fontanelle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-posterior-fontanelle"
      },
      {
        "slug": "macroorchidism",
        "name": "Large testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macroorchidism"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "pituitary-hypothyroidism",
        "name": "Low thyroid gland function due to abnormal pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pituitary-hypothyroidism"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "neonatal-hyperbilirubinemia",
        "name": "Neonatal hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-hyperbilirubinemia"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "prolonged-neonatal-jaundice",
        "name": "Prolonged yellowing of skin in newborn",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice"
      },
      {
        "slug": "reduced-radioactive-iodine-uptake",
        "name": "Reduced radioactive iodine uptake",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-radioactive-iodine-uptake"
      },
      {
        "slug": "severe-postnatal-growth-retardation",
        "name": "Severe growth delay in children",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "thyroid-hypoplasia",
        "name": "Small thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thyroid-hypoplasia"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      }
    ],
    "related": [
      {
        "slug": "duox2",
        "symbol": "DUOX2",
        "name": "dual oxidase 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/duox2"
      },
      {
        "slug": "duoxa2",
        "symbol": "DUOXA2",
        "name": "dual oxidase maturation factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/duoxa2"
      },
      {
        "slug": "igsf1",
        "symbol": "IGSF1",
        "name": "immunoglobulin superfamily member 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/igsf1"
      },
      {
        "slug": "irs4",
        "symbol": "IRS4",
        "name": "insulin receptor substrate 4",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/irs4"
      },
      {
        "slug": "iyd",
        "symbol": "IYD",
        "name": "iodotyrosine deiodinase",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/iyd"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "name": "NK2 homeobox 5",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/nkx2-5"
      },
      {
        "slug": "pax8",
        "symbol": "PAX8",
        "name": "paired box 8",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pax8"
      },
      {
        "slug": "secisbp2",
        "symbol": "SECISBP2",
        "name": "SECIS binding protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/secisbp2"
      },
      {
        "slug": "slc26a4",
        "symbol": "SLC26A4",
        "name": "solute carrier family 26 member 4",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/slc26a4"
      },
      {
        "slug": "slc26a7",
        "symbol": "SLC26A7",
        "name": "solute carrier family 26 member 7",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/slc26a7"
      },
      {
        "slug": "slc5a5",
        "symbol": "SLC5A5",
        "name": "solute carrier family 5 member 5",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/slc5a5"
      },
      {
        "slug": "tbl1x",
        "symbol": "TBL1X",
        "name": "transducin beta like 1 X-linked",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/tbl1x"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}