{
  "url": "https://dantelabs.com/genes/foxe1",
  "gene": {
    "slug": "foxe1",
    "symbol": "FOXE1",
    "name": "forkhead box E1",
    "hgnc": "HGNC:3806",
    "summary": null,
    "location": "9q22.33",
    "locusType": "gene with protein product",
    "aliases": [
      "TTF-2",
      "HFKH4"
    ],
    "previousSymbols": [
      "FKHL15",
      "TITF2",
      "FOXE2"
    ],
    "ensemblId": "ENSG00000178919",
    "entrezId": 2304,
    "omim": [
      "602617"
    ],
    "uniprot": [
      "O00358"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 97853226,
      "end": 97856717,
      "strand": "+",
      "ensemblTranscript": "ENST00000375123.5",
      "refseqTranscript": "NM_004473.4",
      "ensemblProtein": "ENSP00000364265.3",
      "refseqProtein": "NP_004464.2",
      "exons": [
        {
          "start": 97853226,
          "end": 97856717
        }
      ],
      "cds": {
        "start": 97853915,
        "end": 97855036
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 100615536,
      "end": 100618986,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 97354972,
      "end": 98354971,
      "genes": [
        {
          "symbol": "CCDC180",
          "ensemblId": "ENSG00000197816",
          "biotype": "protein_coding",
          "start": 97307304,
          "end": 97378751,
          "strand": "+",
          "slug": "ccdc180"
        },
        {
          "symbol": "TDRD7",
          "ensemblId": "ENSG00000196116",
          "biotype": "protein_coding",
          "start": 97411974,
          "end": 97496125,
          "strand": "+",
          "slug": "tdrd7"
        },
        {
          "symbol": "TMOD1",
          "ensemblId": "ENSG00000136842",
          "biotype": "protein_coding",
          "start": 97501180,
          "end": 97606817,
          "strand": "+",
          "slug": "tmod1"
        },
        {
          "symbol": "TSTD2",
          "ensemblId": "ENSG00000136925",
          "biotype": "protein_coding",
          "start": 97600080,
          "end": 97633576,
          "strand": "-",
          "slug": "tstd2"
        },
        {
          "symbol": "NCBP1",
          "ensemblId": "ENSG00000136937",
          "biotype": "protein_coding",
          "start": 97633402,
          "end": 97676992,
          "strand": "+",
          "slug": "ncbp1"
        },
        {
          "symbol": "XPA",
          "ensemblId": "ENSG00000136936",
          "biotype": "protein_coding",
          "start": 97653139,
          "end": 97697408,
          "strand": "-",
          "slug": "xpa"
        },
        {
          "symbol": "TRMO",
          "ensemblId": "ENSG00000136932",
          "biotype": "protein_coding",
          "start": 97894512,
          "end": 97922570,
          "strand": "-",
          "slug": "trmo"
        },
        {
          "symbol": "HEMGN",
          "ensemblId": "ENSG00000136929",
          "biotype": "protein_coding",
          "start": 97926791,
          "end": 97944856,
          "strand": "-",
          "slug": "hemgn"
        },
        {
          "symbol": "ANP32B",
          "ensemblId": "ENSG00000136938",
          "biotype": "protein_coding",
          "start": 97983126,
          "end": 98017079,
          "strand": "+",
          "slug": "anp32b"
        },
        {
          "symbol": "TRIM14",
          "ensemblId": "ENSG00000106785",
          "biotype": "protein_coding",
          "start": 98035242,
          "end": 98119404,
          "strand": "-",
          "slug": "trim14"
        },
        {
          "symbol": "NANS",
          "ensemblId": "ENSG00000095380",
          "biotype": "protein_coding",
          "start": 98056637,
          "end": 98084394,
          "strand": "+",
          "slug": "nans"
        },
        {
          "symbol": "CORO2A",
          "ensemblId": "ENSG00000106789",
          "biotype": "protein_coding",
          "start": 98120975,
          "end": 98193206,
          "strand": "-",
          "slug": "coro2a"
        },
        {
          "symbol": "TBC1D2",
          "ensemblId": "ENSG00000095383",
          "biotype": "protein_coding",
          "start": 98198999,
          "end": 98256427,
          "strand": "-",
          "slug": "tbc1d2"
        },
        {
          "symbol": "GABBR2",
          "ensemblId": "ENSG00000136928",
          "biotype": "protein_coding",
          "start": 98288087,
          "end": 98709739,
          "strand": "-",
          "slug": "gabbr2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-hypothyroidism",
        "name": "Congenital Hypothyroidism",
        "diseases": [
          {
            "mondoId": "MONDO:0009437",
            "name": "Bamforth-Lazarus syndrome",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Congenital hypothyroidism due to an absent or underdeveloped thyroid with cleft palate and spiky hair, caused by FOXE1 variants.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/congenital-hypothyroidism"
      }
    ],
    "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-hair-quantity",
        "name": "Abnormal hair quantity",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-quantity"
      },
      {
        "slug": "abnormal-lymph-node-morphology",
        "name": "Abnormal lymph node histology",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-lymph-node-morphology"
      },
      {
        "slug": "abnormal-neck-blood-vessel-morphology",
        "name": "Abnormality of blood vessel of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-neck-blood-vessel-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": "basal-cell-carcinoma",
        "name": "Basal cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/basal-cell-carcinoma"
      },
      {
        "slug": "bifid-epiglottis",
        "name": "Bifid epiglottis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-epiglottis"
      },
      {
        "slug": "bilateral-choanal-atresia",
        "name": "Bilateral blockage of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-choanal-atresia"
      },
      {
        "slug": "choanal-atresia",
        "name": "Blockage of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/choanal-atresia"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "chronic-lung-disease",
        "name": "Chronic lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-lung-disease"
      },
      {
        "slug": "chronic-noninfectious-lymphadenopathy",
        "name": "Chronic noninfectious lymphadenopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-noninfectious-lymphadenopathy"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "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": "colon-cancer",
        "name": "Colon cancer",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colon-cancer"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-t4-concentration"
      },
      {
        "slug": "decreased-circulating-thyroglobulin-concentration",
        "name": "Decreased circulating thyroglobulin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-thyroglobulin-concentration"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "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": "goiter",
        "name": "Enlarged thyroid gland in neck",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/goiter"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "follicular-thyroid-carcinoma",
        "name": "Follicular thyroid carcinoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/follicular-thyroid-carcinoma"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "neoplasm-of-head-and-neck",
        "name": "Head and neck tumor",
        "systems": [
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neoplasm-of-head-and-neck"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hoarse-cry",
        "name": "Hoarse cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoarse-cry"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "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": "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": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nodular-goiter",
        "name": "Nodular goiter",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nodular-goiter"
      },
      {
        "slug": "ovarian-neoplasm",
        "name": "Ovarian cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ovarian-neoplasm"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "papillary-renal-cell-carcinoma",
        "name": "Papillary renal cell carcinoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/papillary-renal-cell-carcinoma"
      },
      {
        "slug": "papillary-thyroid-carcinoma",
        "name": "Papillary thyroid carcinoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/papillary-thyroid-carcinoma"
      },
      {
        "slug": "spinal-cord-compression",
        "name": "Pressure on spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spinal-cord-compression"
      },
      {
        "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": "prostate-cancer",
        "name": "Prostate cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prostate-cancer"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "thyroid-agenesis",
        "name": "Thyroid agenesis",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thyroid-agenesis"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "congenital-hypothyroidism",
        "name": "Underactive thyroid gland from birth",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-hypothyroidism"
      },
      {
        "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"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}