{
  "url": "https://dantelabs.com/cs/genes/kcnq5",
  "gene": {
    "slug": "kcnq5",
    "symbol": "KCNQ5",
    "name": "potassium voltage-gated channel subfamily Q member 5",
    "hgnc": "HGNC:6299",
    "summary": null,
    "location": "6q13",
    "locusType": "gene with protein product",
    "aliases": [
      "Kv7.5"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000185760",
    "entrezId": 56479,
    "omim": [
      "607357"
    ],
    "uniprot": [
      "Q9NR82"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 72622064,
      "end": 73198853,
      "strand": "+",
      "ensemblTranscript": "ENST00000370398.6",
      "refseqTranscript": "NM_019842.4",
      "ensemblProtein": "ENSP00000359425.1",
      "refseqProtein": "NP_062816.2",
      "exons": [
        {
          "start": 72622064,
          "end": 72622587
        },
        {
          "start": 73003908,
          "end": 73003998
        },
        {
          "start": 73041936,
          "end": 73042062
        },
        {
          "start": 73077322,
          "end": 73077497
        },
        {
          "start": 73077762,
          "end": 73077887
        },
        {
          "start": 73105257,
          "end": 73105367
        },
        {
          "start": 73111308,
          "end": 73111403
        },
        {
          "start": 73120483,
          "end": 73120577
        },
        {
          "start": 73124486,
          "end": 73124512
        },
        {
          "start": 73133421,
          "end": 73133641
        },
        {
          "start": 73169746,
          "end": 73169854
        },
        {
          "start": 73190573,
          "end": 73190704
        },
        {
          "start": 73192565,
          "end": 73192691
        },
        {
          "start": 73194452,
          "end": 73198853
        }
      ],
      "cds": {
        "start": 72622190,
        "end": 73195414
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 73331520,
      "end": 73908574,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 72045274,
      "end": 73775643,
      "genes": [
        {
          "symbol": "RIMS1",
          "ensemblId": "ENSG00000079841",
          "biotype": "protein_coding",
          "start": 71886550,
          "end": 72403150,
          "strand": "+",
          "slug": "rims1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000243501",
          "biotype": "protein_coding",
          "start": 73209746,
          "end": 73263196,
          "strand": "-"
        },
        {
          "symbol": "KHDC1L",
          "ensemblId": "ENSG00000256980",
          "biotype": "protein_coding",
          "start": 73223544,
          "end": 73225770,
          "strand": "-",
          "slug": "khdc1l"
        },
        {
          "symbol": "KHDC1",
          "ensemblId": "ENSG00000135314",
          "biotype": "protein_coding",
          "start": 73241310,
          "end": 73310455,
          "strand": "-",
          "slug": "khdc1"
        },
        {
          "symbol": "DPPA5",
          "ensemblId": "ENSG00000203909",
          "biotype": "protein_coding",
          "start": 73353063,
          "end": 73354294,
          "strand": "-",
          "slug": "dppa5"
        },
        {
          "symbol": "KHDC3L",
          "ensemblId": "ENSG00000203908",
          "biotype": "protein_coding",
          "start": 73362653,
          "end": 73364173,
          "strand": "+",
          "slug": "khdc3l"
        },
        {
          "symbol": "OOEP",
          "ensemblId": "ENSG00000203907",
          "biotype": "protein_coding",
          "start": 73368549,
          "end": 73395133,
          "strand": "-",
          "slug": "ooep"
        },
        {
          "symbol": "DDX43",
          "ensemblId": "ENSG00000080007",
          "biotype": "protein_coding",
          "start": 73394774,
          "end": 73417578,
          "strand": "+",
          "slug": "ddx43"
        },
        {
          "symbol": "CGAS",
          "ensemblId": "ENSG00000164430",
          "biotype": "protein_coding",
          "start": 73413515,
          "end": 73461726,
          "strand": "-",
          "slug": "cgas"
        },
        {
          "symbol": "MTO1",
          "ensemblId": "ENSG00000135297",
          "biotype": "protein_coding",
          "start": 73461578,
          "end": 73509236,
          "strand": "+",
          "slug": "mto1"
        },
        {
          "symbol": "EEF1A1",
          "ensemblId": "ENSG00000156508",
          "biotype": "protein_coding",
          "start": 73489308,
          "end": 73525587,
          "strand": "-",
          "slug": "eef1a1"
        },
        {
          "symbol": "SLC17A5",
          "ensemblId": "ENSG00000119899",
          "biotype": "protein_coding",
          "start": 73593364,
          "end": 73654106,
          "strand": "-",
          "slug": "slc17a5"
        },
        {
          "symbol": "CD109",
          "ensemblId": "ENSG00000156535",
          "biotype": "protein_coding",
          "start": 73695779,
          "end": 73828316,
          "strand": "+",
          "slug": "cd109"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intellectual-disability",
        "name": "Intellectual Disability",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "intellectual disability",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      },
      {
        "slug": "tube-feeding",
        "name": "Tube feeding",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tube-feeding"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      }
    ],
    "related": [
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/ap2m1"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arhgef9"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "name": "AT-rich interaction domain 1A",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/arid1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}