{
  "url": "https://dantelabs.com/hu/genes/txndc15",
  "gene": {
    "slug": "txndc15",
    "symbol": "TXNDC15",
    "name": "thioredoxin domain containing 15",
    "hgnc": "HGNC:20652",
    "summary": null,
    "location": "5q31.1",
    "locusType": "gene with protein product",
    "aliases": [
      "TMX5",
      "FLJ22625",
      "2310047H23Rik"
    ],
    "previousSymbols": [
      "C5orf14"
    ],
    "ensemblId": "ENSG00000113621",
    "entrezId": 79770,
    "omim": [
      "617778"
    ],
    "uniprot": [
      "Q96J42"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 134874371,
      "end": 134901635,
      "strand": "+",
      "ensemblTranscript": "ENST00000358387.9",
      "refseqTranscript": "NM_024715.4",
      "ensemblProtein": "ENSP00000351157.5",
      "refseqProtein": "NP_078991.3",
      "exons": [
        {
          "start": 134874371,
          "end": 134874530
        },
        {
          "start": 134887695,
          "end": 134888182
        },
        {
          "start": 134893492,
          "end": 134893655
        },
        {
          "start": 134896294,
          "end": 134896424
        },
        {
          "start": 134899489,
          "end": 134901635
        }
      ],
      "cds": {
        "start": 134874428,
        "end": 134899685
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 134209493,
      "end": 134237215,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 134388003,
      "end": 135388002,
      "genes": [
        {
          "symbol": "UBE2B",
          "ensemblId": "ENSG00000119048",
          "biotype": "protein_coding",
          "start": 134371174,
          "end": 134394447,
          "strand": "+",
          "slug": "ube2b"
        },
        {
          "symbol": "XTBD1",
          "ensemblId": "ENSG00000237190",
          "biotype": "protein_coding",
          "start": 134373327,
          "end": 134411902,
          "strand": "-",
          "slug": "xtbd1"
        },
        {
          "symbol": "JADE2",
          "ensemblId": "ENSG00000043143",
          "biotype": "protein_coding",
          "start": 134523979,
          "end": 134583230,
          "strand": "+",
          "slug": "jade2"
        },
        {
          "symbol": "SAR1B",
          "ensemblId": "ENSG00000152700",
          "biotype": "protein_coding",
          "start": 134601149,
          "end": 134649271,
          "strand": "-",
          "slug": "sar1b"
        },
        {
          "symbol": "SEC24A",
          "ensemblId": "ENSG00000113615",
          "biotype": "protein_coding",
          "start": 134648587,
          "end": 134727911,
          "strand": "+",
          "slug": "sec24a"
        },
        {
          "symbol": "CAMLG",
          "ensemblId": "ENSG00000164615",
          "biotype": "protein_coding",
          "start": 134737608,
          "end": 134752705,
          "strand": "+",
          "slug": "camlg"
        },
        {
          "symbol": "DDX46",
          "ensemblId": "ENSG00000145833",
          "biotype": "protein_coding",
          "start": 134758771,
          "end": 134831121,
          "strand": "+",
          "slug": "ddx46"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000310592",
          "biotype": "protein_coding",
          "start": 134818916,
          "end": 134855133,
          "strand": "+"
        },
        {
          "symbol": "C5orf24",
          "ensemblId": "ENSG00000181904",
          "biotype": "protein_coding",
          "start": 134845680,
          "end": 134859735,
          "strand": "+",
          "slug": "c5orf24"
        },
        {
          "symbol": "PCBD2",
          "ensemblId": "ENSG00000132570",
          "biotype": "protein_coding",
          "start": 134905039,
          "end": 135007959,
          "strand": "+",
          "slug": "pcbd2"
        },
        {
          "symbol": "CATSPER3",
          "ensemblId": "ENSG00000152705",
          "biotype": "protein_coding",
          "start": 134967907,
          "end": 135011696,
          "strand": "+",
          "slug": "catsper3"
        },
        {
          "symbol": "PITX1",
          "ensemblId": "ENSG00000069011",
          "biotype": "protein_coding",
          "start": 135027734,
          "end": 135034813,
          "strand": "-",
          "slug": "pitx1"
        },
        {
          "symbol": "MACROH2A1",
          "ensemblId": "ENSG00000113648",
          "biotype": "protein_coding",
          "start": 135332641,
          "end": 135400023,
          "strand": "-",
          "slug": "macroh2a1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "meckel-syndrome",
        "name": "Meckel Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0018921",
            "name": "Meckel Syndrome",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/meckel-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-chorioretinal-morphology",
        "name": "Abnormal chorioretinal morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-chorioretinal-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anophthalmia",
        "name": "Absence of eyeballs",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anophthalmia"
      },
      {
        "slug": "asplenia",
        "name": "Absent spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/asplenia"
      },
      {
        "slug": "aplasia-of-the-uterus",
        "name": "Absent uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-of-the-uterus"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-iris",
        "name": "Absent/small iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris"
      },
      {
        "slug": "accessory-spleen",
        "name": "Accessory spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/accessory-spleen"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "anencephaly",
        "name": "Anencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anencephaly"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-tongue",
        "name": "Aplasia/Hypoplasia of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-tongue"
      },
      {
        "slug": "protuberant-abdomen",
        "name": "Belly sticks out",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protuberant-abdomen"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "occipital-encephalocele",
        "name": "Brain tissue sticks out through back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/occipital-encephalocele"
      },
      {
        "slug": "cardiorespiratory-arrest",
        "name": "Cardiorespiratory arrest",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiorespiratory-arrest"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "cystic-liver-disease",
        "name": "Cystic liver disease",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cystic-liver-disease"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "ureteral-duplication",
        "name": "Double ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ureteral-duplication"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "congenital-hepatic-fibrosis",
        "name": "Excessive buildup of connective tissue and scarring of liver at birth",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-hepatic-fibrosis"
      },
      {
        "slug": "postaxial-hand-polydactyly",
        "name": "Extra little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly"
      },
      {
        "slug": "preaxial-hand-polydactyly",
        "name": "Extra thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly"
      },
      {
        "slug": "postaxial-foot-polydactyly",
        "name": "Extra toe attached near the little toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postaxial-foot-polydactyly"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "furrowed-tongue",
        "name": "Grooved tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/furrowed-tongue"
      },
      {
        "slug": "sclerocornea",
        "name": "Hardening of skin and connective tissue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sclerocornea"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "increased-nuchal-translucency",
        "name": "Increased nuchal translucency",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-nuchal-translucency"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "lobar-holoprosencephaly",
        "name": "Lobar holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lobar-holoprosencephaly"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "male-pseudohermaphroditism",
        "name": "Male pseudohermaphroditism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/male-pseudohermaphroditism"
      },
      {
        "slug": "mitral-regurgitation",
        "name": "Mitral regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-regurgitation"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pancreatic-cysts",
        "name": "Pancreatic cysts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-cysts"
      },
      {
        "slug": "pancreatic-fibrosis",
        "name": "Pancreatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatic-fibrosis"
      },
      {
        "slug": "polycystic-kidney-dysplasia",
        "name": "Polycystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "postaxial-polydactyly",
        "name": "Postaxial polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postaxial-polydactyly"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "single-ventricle",
        "name": "Single ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/single-ventricle"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "microretrognathia",
        "name": "Small retruded chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microretrognathia"
      },
      {
        "slug": "decreased-calvarial-ossification",
        "name": "Soft skullcap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-calvarial-ossification"
      },
      {
        "slug": "talipes",
        "name": "Talipes",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      },
      {
        "slug": "true-hermaphroditism",
        "name": "True hermaphroditism",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/true-hermaphroditism"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urethral-atresia",
        "name": "Urethral atresia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urethral-atresia"
      },
      {
        "slug": "syndactyly",
        "name": "Webbed fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/syndactyly"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "b9d1",
        "symbol": "B9D1",
        "name": "B9 domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/b9d1"
      },
      {
        "slug": "b9d2",
        "symbol": "B9D2",
        "name": "B9 domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/b9d2"
      },
      {
        "slug": "kif14",
        "symbol": "KIF14",
        "name": "kinesin family member 14",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/kif14"
      },
      {
        "slug": "mks1",
        "symbol": "MKS1",
        "name": "MKS transition zone complex subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mks1"
      },
      {
        "slug": "rpgrip1l",
        "symbol": "RPGRIP1L",
        "name": "RPGRIP1 like",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rpgrip1l"
      },
      {
        "slug": "tctn2",
        "symbol": "TCTN2",
        "name": "tectonic family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tctn2"
      },
      {
        "slug": "tmem107",
        "symbol": "TMEM107",
        "name": "transmembrane protein 107",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tmem107"
      },
      {
        "slug": "tmem231",
        "symbol": "TMEM231",
        "name": "transmembrane protein 231",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tmem231"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "name": "transmembrane protein 67",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tmem67"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}