{
  "url": "https://dantelabs.com/el/genes/thrb",
  "gene": {
    "slug": "thrb",
    "symbol": "THRB",
    "name": "thyroid hormone receptor beta",
    "hgnc": "HGNC:11799",
    "summary": null,
    "location": "3p24.2",
    "locusType": "gene with protein product",
    "aliases": [
      "THRB1",
      "THRB2",
      "NR1A2",
      "THR1",
      "ERBA-BETA",
      "GRTH",
      "TRbeta",
      "TRb",
      "c-erbA-beta",
      "c-erbA-2",
      "THRbeta",
      "TRbeta1",
      "THRbeta1",
      "Thrbeta2"
    ],
    "previousSymbols": [
      "ERBA2",
      "PRTH"
    ],
    "ensemblId": "ENSG00000151090",
    "entrezId": 7068,
    "omim": [
      "190160"
    ],
    "uniprot": [
      "P10828"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 24117153,
      "end": 24494850,
      "strand": "-",
      "ensemblTranscript": "ENST00000646209.2",
      "refseqTranscript": "NM_001354712.2",
      "ensemblProtein": "ENSP00000496686.2",
      "refseqProtein": "NP_001341641.1",
      "exons": [
        {
          "start": 24117153,
          "end": 24123125
        },
        {
          "start": 24127499,
          "end": 24127757
        },
        {
          "start": 24133316,
          "end": 24133462
        },
        {
          "start": 24143501,
          "end": 24143706
        },
        {
          "start": 24146675,
          "end": 24146822
        },
        {
          "start": 24152390,
          "end": 24152490
        },
        {
          "start": 24190074,
          "end": 24190334
        },
        {
          "start": 24228938,
          "end": 24229001
        },
        {
          "start": 24297226,
          "end": 24297371
        },
        {
          "start": 24337300,
          "end": 24337371
        },
        {
          "start": 24494652,
          "end": 24494850
        }
      ],
      "cds": {
        "start": 24122884,
        "end": 24228959
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 24158651,
      "end": 24536773,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 23739455,
      "end": 24872548,
      "genes": [
        {
          "symbol": "UBE2E1",
          "ensemblId": "ENSG00000170142",
          "biotype": "protein_coding",
          "start": 23805907,
          "end": 23892208,
          "strand": "+",
          "slug": "ube2e1"
        },
        {
          "symbol": "NKIRAS1",
          "ensemblId": "ENSG00000197885",
          "biotype": "protein_coding",
          "start": 23885033,
          "end": 23946591,
          "strand": "-",
          "slug": "nkiras1"
        },
        {
          "symbol": "RPL15",
          "ensemblId": "ENSG00000174748",
          "biotype": "protein_coding",
          "start": 23916591,
          "end": 23924374,
          "strand": "+",
          "slug": "rpl15"
        },
        {
          "symbol": "NR1D2",
          "ensemblId": "ENSG00000174738",
          "biotype": "protein_coding",
          "start": 23945258,
          "end": 23996741,
          "strand": "+",
          "slug": "nr1d2"
        },
        {
          "symbol": "RARB",
          "ensemblId": "ENSG00000077092",
          "biotype": "protein_coding",
          "start": 24687887,
          "end": 25597932,
          "strand": "+",
          "slug": "rarb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hyperthyroidism",
        "name": "Υπερθυρεοειδισμός",
        "diseases": [
          {
            "mondoId": "MONDO:0004425",
            "name": "Υπερθυρεοειδισμός",
            "genes": 3,
            "inheritance": null,
            "description": "Υπερλειτουργία του θυρεοειδούς αδένα που οδηγεί σε υπερπαραγωγή θυρεοειδικής ορμόνης και αυξημένο μεταβολικό ρυθμό. Αίτια αποτελούν η διάχυτη υπερπλασία του θυρεοειδούς αδένα (νόσος Graves), ένας μονήρης οζίδιο στον θυρεοειδή αδένα και η θυρεοειδίτιδα. Τα συμπτώματα σχετίζονται με τον αυξημένο μεταβολικό ρυθμό και περιλαμβάνουν απώλεια βάρους, κόπωση, δυσανεξία στη ζέστη, υπερβολική εφίδρωση, διάρροια, ταχυκαρδία, αϋπνία, μυϊκή αδυναμία και τρόμο.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hyperthyroidism"
      },
      {
        "slug": "thyroid-cancer-report",
        "name": "Καρκίνος του θυρεοειδούς",
        "diseases": [
          {
            "mondoId": "MONDO:0004425",
            "name": "Υπερθυρεοειδισμός",
            "genes": 3,
            "inheritance": null,
            "description": "Υπερδραστηριότητα του θυρεοειδούς αδένα με αποτέλεσμα υπερπαραγωγή θυρεοειδικής ορμόνης και αυξημένο μεταβολικό ρυθμό. Αίτια είναι η διάχυτη υπερπλασία του θυρεοειδούς αδένα (νόσος Graves), ένα μεμονωμένο οζίδιο στον θυρεοειδή αδένα και η θυρεοειδίτιδα. Τα συμπτώματα σχετίζονται με τον αυξημένο μεταβολικό ρυθμό και περιλαμβάνουν απώλεια βάρους, κόπωση, δυσανεξία στη ζέστη, υπερβολική εφίδρωση, διάρροια, ταχυκαρδία, αϋπνία, μυϊκή αδυναμία και τρόμο.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0045046",
            "name": "Κληρονομική διαταραχή του μεταβολισμού του θυρεοειδούς",
            "genes": 8,
            "inheritance": null,
            "description": "Κληρονομική μεταβολική νόσος που έχει τη βάση της στη διαταραχή της διαδικασίας μεταβολισμού των θυρεοειδικών ορμονών.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0003240",
            "name": "Διαταραχή του θυρεοειδούς αδένα",
            "genes": 21,
            "inheritance": null,
            "description": "Νόσος που αφορά τον θυρεοειδή αδένα.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/thyroid-cancer-report"
      },
      {
        "slug": "thyroid-hormone-resistance-transport-metabolism-defects",
        "name": "Αντίσταση στις θυρεοειδικές ορμόνες, ελαττώματα μεταφοράς και μεταβολισμού",
        "diseases": [
          {
            "mondoId": "MONDO:0700478",
            "name": "Αντίσταση στη θυρεοειδική ορμόνη βήτα (THRB)",
            "genes": 1,
            "inheritance": null,
            "description": "Μειωμένη ανταπόκριση στη θυρεοειδική ορμόνη, με αυξημένα επίπεδα θυρεοειδικών ορμονών και φυσιολογικό ή αυξημένο TSH· συχνά συγχέεται με υπερθυρεοειδισμό.",
            "management": "Η αναγνώρισή της αποφεύγει περιττές αντιθυρεοειδικές φαρμακευτικές αγωγές, χορήγηση ραδιενεργού ιωδίου ή χειρουργική επέμβαση στον θυρεοειδή.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/thyroid-hormone-resistance-transport-metabolism-defects"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anti-thyroglobulin-antibody-positivity",
        "name": "Anti-thyroglobulin antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-thyroglobulin-antibody-positivity"
      },
      {
        "slug": "anti-thyroid-peroxidase-antibody-positivity",
        "name": "Anti-thyroid peroxidase antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anti-thyroid-peroxidase-antibody-positivity"
      },
      {
        "slug": "anti-thyroid-stimulating-hormone-receptor-antibody-positivity",
        "name": "Anti-thyroid-stimulating hormone receptor antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anti-thyroid-stimulating-hormone-receptor-antibody-positivity"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "compensated-hypothyroidism",
        "name": "Compensated hypothyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/compensated-hypothyroidism"
      },
      {
        "slug": "decreased-thyroid-stimulating-hormone-level",
        "name": "Decreased thyroid-stimulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "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-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "elevated-circulating-reverse-t3-concentration",
        "name": "Elevated circulating reverse T3 concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-reverse-t3-concentration"
      },
      {
        "slug": "elevated-circulating-thyroglobulin-concentration",
        "name": "Elevated circulating thyroglobulin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroglobulin-concentration"
      },
      {
        "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration",
        "name": "Elevated circulating thyroid-stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "impaired-sensitivity-to-thyroid-hormone",
        "name": "Impaired sensitivity to thyroid hormone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-sensitivity-to-thyroid-hormone"
      },
      {
        "slug": "inappropriately-normal-thyroid-stimulating-hormone-level",
        "name": "Inappropriately normal thyroid-stimulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/inappropriately-normal-thyroid-stimulating-hormone-level"
      },
      {
        "slug": "increased-body-weight",
        "name": "Increased body weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-body-weight"
      },
      {
        "slug": "increased-circulating-free-t3",
        "name": "Increased circulating free T3",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-free-t3"
      },
      {
        "slug": "increased-circulating-free-t4-concentration",
        "name": "Increased circulating free T4 concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-free-t4-concentration"
      },
      {
        "slug": "increased-circulating-t4-concentration",
        "name": "Increased circulating T4 concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-t4-concentration"
      },
      {
        "slug": "mild-postnatal-growth-retardation",
        "name": "Mild growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-postnatal-growth-retardation"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "hyperthyroidism",
        "name": "Overactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/hyperthyroidism"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "epiphyseal-stippling",
        "name": "Speckled calcifications in end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/epiphyseal-stippling"
      }
    ],
    "related": [
      {
        "slug": "alb",
        "symbol": "ALB",
        "name": "albumin",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/alb"
      },
      {
        "slug": "duox2",
        "symbol": "DUOX2",
        "name": "dual oxidase 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/duox2"
      },
      {
        "slug": "duoxa2",
        "symbol": "DUOXA2",
        "name": "dual oxidase maturation factor 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/duoxa2"
      },
      {
        "slug": "iyd",
        "symbol": "IYD",
        "name": "iodotyrosine deiodinase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/iyd"
      },
      {
        "slug": "slc26a4",
        "symbol": "SLC26A4",
        "name": "solute carrier family 26 member 4",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/slc26a4"
      },
      {
        "slug": "slc5a5",
        "symbol": "SLC5A5",
        "name": "solute carrier family 5 member 5",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/slc5a5"
      },
      {
        "slug": "tg",
        "symbol": "TG",
        "name": "thyroglobulin",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/tg"
      },
      {
        "slug": "tpo",
        "symbol": "TPO",
        "name": "thyroid peroxidase",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/tpo"
      },
      {
        "slug": "tshr",
        "symbol": "TSHR",
        "name": "thyroid stimulating hormone receptor",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/tshr"
      },
      {
        "slug": "igsf1",
        "symbol": "IGSF1",
        "name": "immunoglobulin superfamily member 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/igsf1"
      },
      {
        "slug": "irs4",
        "symbol": "IRS4",
        "name": "insulin receptor substrate 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/irs4"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "name": "NK2 homeobox 5",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nkx2-5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}