{
  "url": "https://dantelabs.com/sv/genes/iyd",
  "gene": {
    "slug": "iyd",
    "symbol": "IYD",
    "name": "iodotyrosine deiodinase",
    "hgnc": "HGNC:21071",
    "summary": null,
    "location": "6q25.1",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ422F24.1",
      "DEHAL1"
    ],
    "previousSymbols": [
      "C6orf71"
    ],
    "ensemblId": "ENSG00000009765",
    "entrezId": 389434,
    "omim": [
      "612025"
    ],
    "uniprot": [
      "Q6PHW0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 150369012,
      "end": 150405969,
      "strand": "+",
      "ensemblTranscript": "ENST00000344419.8",
      "refseqTranscript": "NM_203395.3",
      "ensemblProtein": "ENSP00000343763.4",
      "refseqProtein": "NP_981932.1",
      "exons": [
        {
          "start": 150369012,
          "end": 150369209
        },
        {
          "start": 150389352,
          "end": 150389543
        },
        {
          "start": 150392345,
          "end": 150392504
        },
        {
          "start": 150394099,
          "end": 150394255
        },
        {
          "start": 150398055,
          "end": 150405969
        }
      ],
      "cds": {
        "start": 150369032,
        "end": 150398237
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 150690028,
      "end": 150727105,
      "strand": "+"
    },
    "neighbourhood": {
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      "start": 149887491,
      "end": 150887490,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000285991",
          "biotype": "protein_coding",
          "start": 149817937,
          "end": 149896011,
          "strand": "-"
        },
        {
          "symbol": "RAET1E",
          "ensemblId": "ENSG00000164520",
          "biotype": "protein_coding",
          "start": 149882982,
          "end": 149898118,
          "strand": "-",
          "slug": "raet1e"
        },
        {
          "symbol": "RAET1G",
          "ensemblId": "ENSG00000203722",
          "biotype": "protein_coding",
          "start": 149915593,
          "end": 149923126,
          "strand": "-",
          "slug": "raet1g"
        },
        {
          "symbol": "ULBP2",
          "ensemblId": "ENSG00000131015",
          "biotype": "protein_coding",
          "start": 149941938,
          "end": 149949235,
          "strand": "+",
          "slug": "ulbp2"
        },
        {
          "symbol": "ULBP1",
          "ensemblId": "ENSG00000111981",
          "biotype": "protein_coding",
          "start": 149963935,
          "end": 149973715,
          "strand": "+",
          "slug": "ulbp1"
        },
        {
          "symbol": "RAET1L",
          "ensemblId": "ENSG00000155918",
          "biotype": "protein_coding",
          "start": 150018334,
          "end": 150025567,
          "strand": "-",
          "slug": "raet1l"
        },
        {
          "symbol": "ULBP3",
          "ensemblId": "ENSG00000131019",
          "biotype": "protein_coding",
          "start": 150057438,
          "end": 150069191,
          "strand": "-",
          "slug": "ulbp3"
        },
        {
          "symbol": "PPP1R14C",
          "ensemblId": "ENSG00000198729",
          "biotype": "protein_coding",
          "start": 150142993,
          "end": 150250392,
          "strand": "+",
          "slug": "ppp1r14c"
        },
        {
          "symbol": "PLEKHG1",
          "ensemblId": "ENSG00000120278",
          "biotype": "protein_coding",
          "start": 150599687,
          "end": 150843665,
          "strand": "+",
          "slug": "plekhg1"
        },
        {
          "symbol": "MTHFD1L",
          "ensemblId": "ENSG00000120254",
          "biotype": "protein_coding",
          "start": 150865419,
          "end": 151101889,
          "strand": "+",
          "slug": "mthfd1l"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-hypothyroidism",
        "name": "Medfödd hypotyreos",
        "diseases": [
          {
            "mondoId": "MONDO:0018612",
            "name": "Medfödd hypotyreos",
            "genes": 18,
            "inheritance": null,
            "description": "En brist på sköldkörtelhormon som finns från födseln.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/congenital-hypothyroidism"
      },
      {
        "slug": "thyroid-cancer-report",
        "name": "Sköldkörtelcancer",
        "diseases": [
          {
            "mondoId": "MONDO:0045046",
            "name": "Ärftlig sjukdom i sköldkörtelns ämnesomsättning",
            "genes": 8,
            "inheritance": null,
            "description": "En ärftlig metabolisk sjukdom som bygger på en störning i ämnesomsättningen av sköldkörtelhormon.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0005420",
            "name": "Hypotyreos",
            "genes": 18,
            "inheritance": null,
            "description": "Onormalt låga nivåer av sköldkörtelhormon.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0003240",
            "name": "Sjukdom i sköldkörteln",
            "genes": 21,
            "inheritance": null,
            "description": "En sjukdom som påverkar sköldkörteln.",
            "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/thyroid-cancer-report"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-thyroglobulin-concentration",
        "name": "Abnormal circulating thyroglobulin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "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": "very-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": "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": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration",
        "name": "Elevated circulating thyroid-stimulating hormone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration"
      },
      {
        "slug": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "facial-edema",
        "name": "Facial puffiness",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-edema"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/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": "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": "neonatal-hyperbilirubinemia",
        "name": "Neonatal hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "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": "positive-perchlorate-discharge-test",
        "name": "Positive perchlorate discharge test",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/positive-perchlorate-discharge-test"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/reduced-radioactive-iodine-uptake"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "bradycardia",
        "name": "Slow heartbeats",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bradycardia"
      },
      {
        "slug": "thyroid-defect-in-oxidation-and-organification-of-iodide",
        "name": "Thyroid defect in oxidation and organification of iodide",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thyroid-defect-in-oxidation-and-organification-of-iodide"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "congenital-hypothyroidism",
        "name": "Underactive thyroid gland from birth",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congenital-hypothyroidism"
      }
    ],
    "related": [
      {
        "slug": "duox2",
        "symbol": "DUOX2",
        "name": "dual oxidase 2",
        "shared": 4,
        "url": "https://dantelabs.com/sv/genes/duox2"
      },
      {
        "slug": "duoxa2",
        "symbol": "DUOXA2",
        "name": "dual oxidase maturation factor 2",
        "shared": 4,
        "url": "https://dantelabs.com/sv/genes/duoxa2"
      },
      {
        "slug": "slc26a4",
        "symbol": "SLC26A4",
        "name": "solute carrier family 26 member 4",
        "shared": 4,
        "url": "https://dantelabs.com/sv/genes/slc26a4"
      },
      {
        "slug": "slc5a5",
        "symbol": "SLC5A5",
        "name": "solute carrier family 5 member 5",
        "shared": 4,
        "url": "https://dantelabs.com/sv/genes/slc5a5"
      },
      {
        "slug": "tg",
        "symbol": "TG",
        "name": "thyroglobulin",
        "shared": 4,
        "url": "https://dantelabs.com/sv/genes/tg"
      },
      {
        "slug": "tpo",
        "symbol": "TPO",
        "name": "thyroid peroxidase",
        "shared": 4,
        "url": "https://dantelabs.com/sv/genes/tpo"
      },
      {
        "slug": "igsf1",
        "symbol": "IGSF1",
        "name": "immunoglobulin superfamily member 1",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/igsf1"
      },
      {
        "slug": "irs4",
        "symbol": "IRS4",
        "name": "insulin receptor substrate 4",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/irs4"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "name": "NK2 homeobox 5",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/nkx2-5"
      },
      {
        "slug": "pax8",
        "symbol": "PAX8",
        "name": "paired box 8",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/pax8"
      },
      {
        "slug": "secisbp2",
        "symbol": "SECISBP2",
        "name": "SECIS binding protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/secisbp2"
      },
      {
        "slug": "slc26a7",
        "symbol": "SLC26A7",
        "name": "solute carrier family 26 member 7",
        "shared": 3,
        "url": "https://dantelabs.com/sv/genes/slc26a7"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}