{
  "url": "https://dantelabs.com/de/genes/cep135",
  "gene": {
    "slug": "cep135",
    "symbol": "CEP135",
    "name": "centrosomal protein 135",
    "hgnc": "HGNC:29086",
    "summary": null,
    "location": "4q12",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ13621"
    ],
    "previousSymbols": [
      "KIAA0635",
      "CEP4"
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    "entrezId": 9662,
    "omim": [
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    "uniprot": [
      "Q66GS9"
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      "chrom": "4",
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      "strand": "+",
      "ensemblTranscript": "ENST00000257287.5",
      "refseqTranscript": "NM_025009.5",
      "ensemblProtein": "ENSP00000257287.3",
      "refseqProtein": "NP_079285.2",
      "exons": [
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      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
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      "end": 56899529,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "CLOCK",
          "ensemblId": "ENSG00000134852",
          "biotype": "protein_coding",
          "start": 55427903,
          "end": 55547491,
          "strand": "-",
          "slug": "clock"
        },
        {
          "symbol": "PDCL2",
          "ensemblId": "ENSG00000163440",
          "biotype": "protein_coding",
          "start": 55556514,
          "end": 55592245,
          "strand": "-",
          "slug": "pdcl2"
        },
        {
          "symbol": "NMU",
          "ensemblId": "ENSG00000109255",
          "biotype": "protein_coding",
          "start": 55595229,
          "end": 55636800,
          "strand": "-",
          "slug": "nmu"
        },
        {
          "symbol": "EXOC1L",
          "ensemblId": "ENSG00000250821",
          "biotype": "protein_coding",
          "start": 55819790,
          "end": 55837489,
          "strand": "+",
          "slug": "exoc1l"
        },
        {
          "symbol": "EXOC1",
          "ensemblId": "ENSG00000090989",
          "biotype": "protein_coding",
          "start": 55853628,
          "end": 55905165,
          "strand": "+",
          "slug": "exoc1"
        },
        {
          "symbol": "CRACD",
          "ensemblId": "ENSG00000109265",
          "biotype": "protein_coding",
          "start": 56049091,
          "end": 56330609,
          "strand": "+",
          "slug": "cracd"
        },
        {
          "symbol": "AASDH",
          "ensemblId": "ENSG00000157426",
          "biotype": "protein_coding",
          "start": 56337482,
          "end": 56387523,
          "strand": "-",
          "slug": "aasdh"
        },
        {
          "symbol": "PPAT",
          "ensemblId": "ENSG00000128059",
          "biotype": "protein_coding",
          "start": 56393362,
          "end": 56436038,
          "strand": "-",
          "slug": "ppat"
        },
        {
          "symbol": "PAICS",
          "ensemblId": "ENSG00000128050",
          "biotype": "protein_coding",
          "start": 56435058,
          "end": 56464578,
          "strand": "+",
          "slug": "paics"
        },
        {
          "symbol": "SRP72",
          "ensemblId": "ENSG00000174780",
          "biotype": "protein_coding",
          "start": 56467591,
          "end": 56503891,
          "strand": "+",
          "slug": "srp72"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-recessive-primary-microcephaly",
        "name": "Autosomale rezessive primäre Mikrozephalie",
        "diseases": [
          {
            "mondoId": "MONDO:0016660",
            "name": "Autosomale rezessive primäre Mikrozephalie",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "Verursacht durch Veränderungen an beiden Kopien eines von vielen Genen, die steuern, wie sich Stammzellen des Gehirns während der fetalen Entwicklung teilen, darunter ASPM, CDK5RAP2, STIL und KIF14.",
            "management": "Die Unterstützung konzentriert sich auf Entwicklungs-, Bildungs- und Sprachtherapie, bei Bedarf ergänzt durch eine Behandlung von Krampfanfällen. Die genetische Beratung und die Trägerdiagnostik bei Verwandten klären das Wiederholungsrisiko von 1 zu 4. Eine Testung in einer künftigen Schwangerschaft ist möglich, sobald beide familiären Varianten bekannt sind.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/autosomal-recessive-primary-microcephaly"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cortical-bone-morphology",
        "name": "Abnormal cortical bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology"
      },
      {
        "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": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "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": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "primary-microcephaly",
        "name": "Small head 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/primary-microcephaly"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "hypoplasia-of-the-frontal-lobes",
        "name": "Underdeveloped frontal lobe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      }
    ],
    "related": [
      {
        "slug": "ankle2",
        "symbol": "ANKLE2",
        "name": "ankyrin repeat and LEM domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ankle2"
      },
      {
        "slug": "aspm",
        "symbol": "ASPM",
        "name": "assembly factor for spindle microtubules",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aspm"
      },
      {
        "slug": "cdk5rap2",
        "symbol": "CDK5RAP2",
        "name": "CDK5 regulatory subunit associated protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cdk5rap2"
      },
      {
        "slug": "cep152",
        "symbol": "CEP152",
        "name": "centrosomal protein 152",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cep152"
      },
      {
        "slug": "cit",
        "symbol": "CIT",
        "name": "citron rho-interacting serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cit"
      },
      {
        "slug": "cpap",
        "symbol": "CPAP",
        "name": "centrosome assembly and centriole elongation protein",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cpap"
      },
      {
        "slug": "kif14",
        "symbol": "KIF14",
        "name": "kinesin family member 14",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/kif14"
      },
      {
        "slug": "knl1",
        "symbol": "KNL1",
        "name": "kinetochore scaffold 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/knl1"
      },
      {
        "slug": "mcph1",
        "symbol": "MCPH1",
        "name": "microcephalin 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/mcph1"
      },
      {
        "slug": "mfsd2a",
        "symbol": "MFSD2A",
        "name": "MFSD2 lysolipid transporter A, lysophospholipid",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/mfsd2a"
      },
      {
        "slug": "ncapd2",
        "symbol": "NCAPD2",
        "name": "non-SMC condensin I complex subunit D2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ncapd2"
      },
      {
        "slug": "pdcd6ip",
        "symbol": "PDCD6IP",
        "name": "programmed cell death 6 interacting protein",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/pdcd6ip"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}