{
  "url": "https://dantelabs.com/ro/genes/kif5c",
  "gene": {
    "slug": "kif5c",
    "symbol": "KIF5C",
    "name": "kinesin family member 5C",
    "hgnc": "HGNC:6325",
    "summary": null,
    "location": "2q23.1-q23.2",
    "locusType": "gene with protein product",
    "aliases": [
      "NKHC2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000168280",
    "entrezId": 3800,
    "omim": [
      "604593"
    ],
    "uniprot": [
      "O60282"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 148875227,
      "end": 149026759,
      "strand": "+",
      "ensemblTranscript": "ENST00000435030.6",
      "refseqTranscript": "NM_004522.3",
      "ensemblProtein": "ENSP00000393379.1",
      "refseqProtein": "NP_004513.1",
      "exons": [
        {
          "start": 148875227,
          "end": 148875743
        },
        {
          "start": 148922137,
          "end": 148922227
        },
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        },
        {
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          "end": 148937388
        },
        {
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        },
        {
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          "end": 148941990
        },
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
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        },
        {
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        },
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        },
        {
          "start": 148991010,
          "end": 148991198
        },
        {
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          "end": 148994538
        },
        {
          "start": 148997264,
          "end": 148997340
        },
        {
          "start": 148998400,
          "end": 148998509
        },
        {
          "start": 149000423,
          "end": 149000524
        },
        {
          "start": 149000722,
          "end": 149000782
        },
        {
          "start": 149005393,
          "end": 149005464
        },
        {
          "start": 149007963,
          "end": 149008067
        },
        {
          "start": 149010135,
          "end": 149010351
        },
        {
          "start": 149011570,
          "end": 149011683
        },
        {
          "start": 149023078,
          "end": 149026759
        }
      ],
      "cds": {
        "start": 148875618,
        "end": 149011676
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 149632819,
      "end": 149883273,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 148450993,
      "end": 149450992,
      "genes": [
        {
          "symbol": "MBD5",
          "ensemblId": "ENSG00000204406",
          "biotype": "protein_coding",
          "start": 148021011,
          "end": 148516971,
          "strand": "+",
          "slug": "mbd5"
        },
        {
          "symbol": "EPC2",
          "ensemblId": "ENSG00000135999",
          "biotype": "protein_coding",
          "start": 148644440,
          "end": 148789225,
          "strand": "+",
          "slug": "epc2"
        },
        {
          "symbol": "LYPD6B",
          "ensemblId": "ENSG00000150556",
          "biotype": "protein_coding",
          "start": 149037975,
          "end": 149215266,
          "strand": "+",
          "slug": "lypd6b"
        },
        {
          "symbol": "LYPD6",
          "ensemblId": "ENSG00000187123",
          "biotype": "protein_coding",
          "start": 149329985,
          "end": 149474139,
          "strand": "+",
          "slug": "lypd6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "complex-cortical-dysplasia-and-frontoparietal-polymicrogyria",
        "name": "Displazie corticală complexă și polimicrogirie frontoparietală",
        "diseases": [
          {
            "mondoId": "MONDO:0000904",
            "name": "Displazie corticală complexă cu alte malformații cerebrale",
            "genes": 15,
            "inheritance": null,
            "description": "Cauzată de modificări ale genelor pentru microtubuli, scheletul intern al celulei, care ghidează celulele nervoase către locul lor în creierul în dezvoltare. Acestea includ TUBB2B și KIF26A; modificările KIF26A afectează ambele copii și sunt recesive.",
            "management": "Îngrijirea include tratamentul convulsiilor, sprijin pentru dezvoltare, kinetoterapie și sprijin educațional, precum și monitorizarea alimentației și a mișcărilor oculare. Consilierea genetică ajută la clarificarea riscului de recurență, iar pentru KIF26A este disponibil testul de purtător pentru rude.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/complex-cortical-dysplasia-and-frontoparietal-polymicrogyria"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "clonic-seizure",
        "name": "Clonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clonic-seizure"
      },
      {
        "slug": "cortical-dysplasia",
        "name": "Cortical dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cortical-dysplasia"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "self-injurious-behavior",
        "name": "Self-injurious behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/self-injurious-behavior"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "small-hand",
        "name": "Small hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/small-hand"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [
      {
        "slug": "adgrg1",
        "symbol": "ADGRG1",
        "name": "adhesion G protein-coupled receptor G1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/adgrg1"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "name": "APC regulator of Wnt signaling pathway 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/apc2"
      },
      {
        "slug": "camsap1",
        "symbol": "CAMSAP1",
        "name": "calmodulin regulated spectrin associated protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/camsap1"
      },
      {
        "slug": "ctnna2",
        "symbol": "CTNNA2",
        "name": "catenin alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ctnna2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/dync1h1"
      },
      {
        "slug": "kif26a",
        "symbol": "KIF26A",
        "name": "kinesin family member 26A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/kif26a"
      },
      {
        "slug": "kif2a",
        "symbol": "KIF2A",
        "name": "kinesin family member 2A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/kif2a"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "name": "tubulin alpha 1a",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/tuba1a"
      },
      {
        "slug": "tubb",
        "symbol": "TUBB",
        "name": "tubulin beta class I",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/tubb"
      },
      {
        "slug": "tubb2a",
        "symbol": "TUBB2A",
        "name": "tubulin beta 2A class IIa",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/tubb2a"
      },
      {
        "slug": "tubb2b",
        "symbol": "TUBB2B",
        "name": "tubulin beta 2B class IIb",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/tubb2b"
      },
      {
        "slug": "tubb3",
        "symbol": "TUBB3",
        "name": "tubulin beta 3 class III",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/tubb3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}