{
  "url": "https://dantelabs.com/fr/genes/tshr",
  "gene": {
    "slug": "tshr",
    "symbol": "TSHR",
    "name": "thyroid stimulating hormone receptor",
    "hgnc": "HGNC:12373",
    "summary": null,
    "location": "14q24-q31",
    "locusType": "gene with protein product",
    "aliases": [
      "LGR3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000165409",
    "entrezId": 7253,
    "omim": [
      "603372"
    ],
    "uniprot": [
      "P16473"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 80955621,
      "end": 81146306,
      "strand": "+",
      "ensemblTranscript": "ENST00000298171.7",
      "refseqTranscript": "NM_000369.5",
      "ensemblProtein": "ENSP00000298171.2",
      "refseqProtein": "NP_000360.2",
      "exons": [
        {
          "start": 80955621,
          "end": 80955850
        },
        {
          "start": 81062148,
          "end": 81062219
        },
        {
          "start": 81068254,
          "end": 81068328
        },
        {
          "start": 81087954,
          "end": 81088028
        },
        {
          "start": 81091069,
          "end": 81091143
        },
        {
          "start": 81092531,
          "end": 81092608
        },
        {
          "start": 81096639,
          "end": 81096707
        },
        {
          "start": 81108375,
          "end": 81108452
        },
        {
          "start": 81139679,
          "end": 81139867
        },
        {
          "start": 81142940,
          "end": 81146306
        }
      ],
      "cds": {
        "start": 80955681,
        "end": 81144353
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 81421333,
      "end": 81612646,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 80550964,
      "end": 81550963,
      "genes": [
        {
          "symbol": "CEP128",
          "ensemblId": "ENSG00000100629",
          "biotype": "protein_coding",
          "start": 80476969,
          "end": 80959517,
          "strand": "-",
          "slug": "cep128"
        },
        {
          "symbol": "GTF2A1",
          "ensemblId": "ENSG00000165417",
          "biotype": "protein_coding",
          "start": 81175452,
          "end": 81221377,
          "strand": "-",
          "slug": "gtf2a1"
        },
        {
          "symbol": "STON2",
          "ensemblId": "ENSG00000140022",
          "biotype": "protein_coding",
          "start": 81260652,
          "end": 81436517,
          "strand": "-",
          "slug": "ston2"
        },
        {
          "symbol": "SEL1L",
          "ensemblId": "ENSG00000071537",
          "biotype": "protein_coding",
          "start": 81471547,
          "end": 81533882,
          "strand": "-",
          "slug": "sel1l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-hypothyroidism",
        "name": "Hypothyroïdie congénitale",
        "diseases": [
          {
            "mondoId": "MONDO:0018612",
            "name": "Hypothyroïdie congénitale",
            "genes": 18,
            "inheritance": null,
            "description": "Un déficit en hormones thyroïdiennes présent dès la naissance.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/congenital-hypothyroidism"
      },
      {
        "slug": "hyperthyroidism",
        "name": "Hyperthyroïdie",
        "diseases": [
          {
            "mondoId": "MONDO:0004425",
            "name": "Hyperthyroïdie",
            "genes": 3,
            "inheritance": null,
            "description": "Une hyperactivité de la glande thyroïde qui entraîne une surproduction d'hormones thyroïdiennes et une accélération du métabolisme. Ses causes comprennent l'hyperplasie diffuse de la glande thyroïde (maladie de Basedow), la présence d'un nodule thyroïdien isolé et la thyroïdite. Les symptômes sont liés à cette augmentation du rythme métabolique et incluent une perte de poids, une fatigue, une intolérance à la chaleur, une transpiration excessive, des diarrhées, une tachycardie, des insomnies, une faiblesse musculaire et des tremblements.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hyperthyroidism"
      },
      {
        "slug": "thyroid-cancer-report",
        "name": "Cancer de la thyroïde",
        "diseases": [
          {
            "mondoId": "MONDO:0004425",
            "name": "Hyperthyroïdie",
            "genes": 3,
            "inheritance": null,
            "description": "Hyperactivité de la glande thyroïde entraînant une surproduction d'hormones thyroïdiennes et une accélération du métabolisme de base. Parmi les causes figurent l'hyperplasie diffuse de la glande thyroïde (maladie de Basedow), un nodule thyroïdien isolé ou une thyroïdite. Les symptômes sont liés à l'augmentation du rythme métabolique et comprennent une perte de poids, une fatigue, une intolérance à la chaleur, des sueurs excessives, une diarrhée, une tachycardie, des insomnies, une faiblesse musculaire et des tremblements.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0005420",
            "name": "Hypothyroïdie",
            "genes": 18,
            "inheritance": null,
            "description": "Taux anormalement bas d'hormones thyroïdiennes.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0003240",
            "name": "Trouble de la glande thyroïde",
            "genes": 21,
            "inheritance": null,
            "description": "Une affection touchant la glande thyroïde.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/thyroid-cancer-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "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-cry",
        "name": "Abnormal cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cry"
      },
      {
        "slug": "abnormal-eye-morphology",
        "name": "Abnormal eye structure",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormal-eye-morphology"
      },
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "abnormality-of-the-face",
        "name": "Abnormality of the face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-face"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "activating-thyroid-stimulating-hormone-receptor-defect",
        "name": "Activating thyroid-stimulating hormone receptor defect",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/activating-thyroid-stimulating-hormone-receptor-defect"
      },
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "autoimmune-antibody-positivity",
        "name": "Autoimmune antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "coldness",
        "name": "Coldness",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coldness"
      },
      {
        "slug": "compensated-hypothyroidism",
        "name": "Compensated hypothyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/compensated-hypothyroidism"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "decreased-circulating-t4-concentration",
        "name": "Decreased circulating T4 concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-t4-concentration"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "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-proximal-femoral-epiphyseal-ossification",
        "name": "Delayed proximal femoral epiphyseal ossification",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-proximal-femoral-epiphyseal-ossification"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "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": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "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": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-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": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hand-tremor",
        "name": "Hand tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hand-tremor"
      },
      {
        "slug": "hoarse-cry",
        "name": "Hoarse cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoarse-cry"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "impaired-sensitivity-to-thyroid-stimulating-hormone",
        "name": "Impaired sensitivity to thyroid stimulating hormone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-sensitivity-to-thyroid-stimulating-hormone"
      },
      {
        "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-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": "increased-radioactive-iodine-uptake",
        "name": "Increased radioactive iodine uptake",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-radioactive-iodine-uptake"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "large-posterior-fontanelle",
        "name": "Large posterior fontanelle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-posterior-fontanelle"
      },
      {
        "slug": "thyroid-hyperplasia",
        "name": "Large thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thyroid-hyperplasia"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neonatal-hyperbilirubinemia",
        "name": "Neonatal hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-hyperbilirubinemia"
      },
      {
        "slug": "hyperthyroidism",
        "name": "Overactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperthyroidism"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/reduced-radioactive-iodine-uptake"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "thyroid-hypoplasia",
        "name": "Small thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thyroid-hypoplasia"
      },
      {
        "slug": "thyroid-agenesis",
        "name": "Thyroid agenesis",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thyroid-agenesis"
      },
      {
        "slug": "thyrotoxicosis-with-diffuse-goiter",
        "name": "Thyrotoxicosis with diffuse goiter",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thyrotoxicosis-with-diffuse-goiter"
      },
      {
        "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": "unconjugated-hyperbilirubinemia",
        "name": "Unconjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unconjugated-hyperbilirubinemia"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "congenital-hypothyroidism",
        "name": "Underactive thyroid gland from birth",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-hypothyroidism"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "large-fontanelles",
        "name": "Wide fontanelles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/large-fontanelles"
      }
    ],
    "related": [
      {
        "slug": "duox2",
        "symbol": "DUOX2",
        "name": "dual oxidase 2",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/duox2"
      },
      {
        "slug": "duoxa2",
        "symbol": "DUOXA2",
        "name": "dual oxidase maturation factor 2",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/duoxa2"
      },
      {
        "slug": "igsf1",
        "symbol": "IGSF1",
        "name": "immunoglobulin superfamily member 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/igsf1"
      },
      {
        "slug": "irs4",
        "symbol": "IRS4",
        "name": "insulin receptor substrate 4",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/irs4"
      },
      {
        "slug": "iyd",
        "symbol": "IYD",
        "name": "iodotyrosine deiodinase",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/iyd"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "name": "NK2 homeobox 5",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/nkx2-5"
      },
      {
        "slug": "pax8",
        "symbol": "PAX8",
        "name": "paired box 8",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/pax8"
      },
      {
        "slug": "secisbp2",
        "symbol": "SECISBP2",
        "name": "SECIS binding protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/secisbp2"
      },
      {
        "slug": "slc26a4",
        "symbol": "SLC26A4",
        "name": "solute carrier family 26 member 4",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/slc26a4"
      },
      {
        "slug": "slc26a7",
        "symbol": "SLC26A7",
        "name": "solute carrier family 26 member 7",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/slc26a7"
      },
      {
        "slug": "slc5a5",
        "symbol": "SLC5A5",
        "name": "solute carrier family 5 member 5",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/slc5a5"
      },
      {
        "slug": "tbl1x",
        "symbol": "TBL1X",
        "name": "transducin beta like 1 X-linked",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/tbl1x"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}