{
  "url": "https://dantelabs.com/cs/genes/kctd1",
  "gene": {
    "slug": "kctd1",
    "symbol": "KCTD1",
    "name": "potassium channel tetramerization domain containing 1",
    "hgnc": "HGNC:18249",
    "summary": null,
    "location": "18q11.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "C18orf5"
    ],
    "ensemblId": "ENSG00000134504",
    "entrezId": 284252,
    "omim": [
      "613420"
    ],
    "uniprot": [
      "Q719H9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 26454910,
      "end": 26548553,
      "strand": "-",
      "ensemblTranscript": "ENST00000580059.7",
      "refseqTranscript": "NM_001142730.3",
      "ensemblProtein": "ENSP00000463041.2",
      "refseqProtein": "NP_001136202.1",
      "exons": [
        {
          "start": 26454910,
          "end": 26455901
        },
        {
          "start": 26459620,
          "end": 26459925
        },
        {
          "start": 26476515,
          "end": 26476659
        },
        {
          "start": 26501072,
          "end": 26501250
        },
        {
          "start": 26546728,
          "end": 26548553
        }
      ],
      "cds": {
        "start": 26455743,
        "end": 26548536
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 24034874,
      "end": 24237365,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 26001732,
      "end": 27001731,
      "genes": [
        {
          "symbol": "SS18",
          "ensemblId": "ENSG00000141380",
          "biotype": "protein_coding",
          "start": 26016253,
          "end": 26091217,
          "strand": "-",
          "slug": "ss18"
        },
        {
          "symbol": "PSMA8",
          "ensemblId": "ENSG00000154611",
          "biotype": "protein_coding",
          "start": 26133852,
          "end": 26193355,
          "strand": "+",
          "slug": "psma8"
        },
        {
          "symbol": "TAF4B",
          "ensemblId": "ENSG00000141384",
          "biotype": "protein_coding",
          "start": 26226386,
          "end": 26391685,
          "strand": "+",
          "slug": "taf4b"
        },
        {
          "symbol": "AQP4",
          "ensemblId": "ENSG00000171885",
          "biotype": "protein_coding",
          "start": 26851707,
          "end": 26865820,
          "strand": "-",
          "slug": "aqp4"
        },
        {
          "symbol": "CHST9",
          "ensemblId": "ENSG00000154080",
          "biotype": "protein_coding",
          "start": 26906481,
          "end": 27185392,
          "strand": "-",
          "slug": "chst9"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "3-4-finger-cutaneous-syndactyly",
        "name": "3-4 finger cutaneous syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/3-4-finger-cutaneous-syndactyly"
      },
      {
        "slug": "abnormal-antihelix-morphology",
        "name": "Abnormal antihelix morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-antihelix-morphology"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-fingernail-morphology",
        "name": "Abnormal fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "abnormal-scalp-morphology",
        "name": "Abnormality of the scalp",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-scalp-morphology"
      },
      {
        "slug": "abnormality-of-the-skin",
        "name": "Abnormality of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skin"
      },
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "agenesis-of-permanent-teeth",
        "name": "Absence of adult teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/agenesis-of-permanent-teeth"
      },
      {
        "slug": "agenesis-of-mandibular-premolar",
        "name": "Absence of lower premolar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-mandibular-premolar"
      },
      {
        "slug": "aplasia-cutis-congenita",
        "name": "Absence of part of skin at birth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplasia-cutis-congenita"
      },
      {
        "slug": "agenesis-of-first-permanent-molar-tooth",
        "name": "Absence of six year molar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-first-permanent-molar-tooth"
      },
      {
        "slug": "agenesis-of-second-permanent-molar",
        "name": "Absence of twelve year molar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-second-permanent-molar"
      },
      {
        "slug": "agenesis-of-maxillary-premolar",
        "name": "Absence of upper premolar",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-maxillary-premolar"
      },
      {
        "slug": "breast-aplasia",
        "name": "Absent breast",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/breast-aplasia"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-nipples",
        "name": "Absent/small nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-nipples"
      },
      {
        "slug": "anteverted-ears",
        "name": "Anteverted ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anteverted-ears"
      },
      {
        "slug": "anisocoria",
        "name": "Asymmetric pupil sizes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anisocoria"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "broad-thumb",
        "name": "Broad thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-thumb"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cardiac-myxoma",
        "name": "Cardiac myxoma",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-myxoma"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "eyelid-coloboma",
        "name": "Cleft eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eyelid-coloboma"
      },
      {
        "slug": "lower-eyelid-coloboma",
        "name": "Cleft lower eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-eyelid-coloboma"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "calvarial-skull-defect",
        "name": "Cranial defect",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/calvarial-skull-defect"
      },
      {
        "slug": "cupped-ear",
        "name": "Cupped ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/cupped-ear"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "short-dental-root",
        "name": "Decreased length of dental roots",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-dental-root"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "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": "ureteral-duplication",
        "name": "Double ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ureteral-duplication"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "duplication-of-renal-pelvis",
        "name": "Duplication of renal pelvis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/duplication-of-renal-pelvis"
      },
      {
        "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": "supernumerary-tooth",
        "name": "Extra teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supernumerary-tooth"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "fine-hair",
        "name": "Fine hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fine-hair"
      },
      {
        "slug": "finger-syndactyly",
        "name": "Finger syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/finger-syndactyly"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "palpebral-edema",
        "name": "Fullness of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpebral-edema"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hypoplasia-of-the-dental-root",
        "name": "Hypoplasia of the dental root",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-dental-root"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "sparse-axillary-hair",
        "name": "Limited armpit hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-axillary-hair"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "multiple-lipomas",
        "name": "Multiple fatty lumps",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-lipomas"
      },
      {
        "slug": "narrow-palpebral-fissure",
        "name": "Narrow eyelid opening",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/narrow-palpebral-fissure"
      },
      {
        "slug": "blepharophimosis",
        "name": "Narrow opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharophimosis"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "overfolded-helix",
        "name": "Overfolded ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/overfolded-helix"
      },
      {
        "slug": "patchy-alopecia",
        "name": "Patchy baldness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patchy-alopecia"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "pyelonephritis",
        "name": "Pyelonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyelonephritis"
      },
      {
        "slug": "radiculomegaly",
        "name": "Radiculomegaly",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/radiculomegaly"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "short-columella",
        "name": "Short columella",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-columella"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-earlobe",
        "name": "Small earlobe",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/small-earlobe"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "supraventricular-tachycardia",
        "name": "Supraventricular tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/supraventricular-tachycardia"
      },
      {
        "slug": "taurodontia",
        "name": "Taurodontia",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/taurodontia"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "torus-palatinus",
        "name": "Torus palatinus",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/torus-palatinus"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "underdeveloped-antitragus",
        "name": "Underdeveloped antitragus",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-antitragus"
      },
      {
        "slug": "underdeveloped-tragus",
        "name": "Underdeveloped tragus",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-tragus"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}