{
  "url": "https://dantelabs.com/el/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"
    ],
    "ensemblId": "ENSG00000174799",
    "entrezId": 9662,
    "omim": [
      "611423"
    ],
    "uniprot": [
      "Q66GS9"
    ],
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      "release": "v1.5",
      "chrom": "4",
      "start": 55948945,
      "end": 56033361,
      "strand": "+",
      "ensemblTranscript": "ENST00000257287.5",
      "refseqTranscript": "NM_025009.5",
      "ensemblProtein": "ENSP00000257287.3",
      "refseqProtein": "NP_079285.2",
      "exons": [
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      ],
      "cds": {
        "start": 55952131,
        "end": 56024603
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 56815037,
      "end": 56899529,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 55491153,
      "end": 56491152,
      "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": "Αυτοσωμικά υπολειπόμενη πρωτοπαθής μικροκεφαλία",
        "diseases": [
          {
            "mondoId": "MONDO:0016660",
            "name": "Αυτοσωμικά υπολειπόμενη πρωτοπαθής μικροκεφαλία",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "Προκαλείται από αλλαγές και στα δύο αντίγραφα ενός από τα πολλά γονίδια που ελέγχουν τον τρόπο διαίρεσης των εγκεφαλικών βλαστικών κυττάρων κατά την εμβρυακή ανάπτυξη, συμπεριλαμβανομένων των ASPM, CDK5RAP2, STIL και KIF14.",
            "management": "Η υποστήριξη επικεντρώνεται σε αναπτυξιακή, εκπαιδευτική και logopedic θεραπεία, με θεραπεία για τους σπασμούς όταν χρειάζεται. Η γενετική συμβουλευτική και ο έλεγχος φορέων στους συγγενείς διευκρινίζουν τον κίνδυνο επανεμφάνισης 1 στις 4, ενώ ο έλεγχος σε μελλοντική εγκυμοσύνη είναι δυνατός όταν είναι γνωστές και οι δύο οικογενειακές παραλλαγές.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/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/el/genes/ankle2"
      },
      {
        "slug": "aspm",
        "symbol": "ASPM",
        "name": "assembly factor for spindle microtubules",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aspm"
      },
      {
        "slug": "cdk5rap2",
        "symbol": "CDK5RAP2",
        "name": "CDK5 regulatory subunit associated protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cdk5rap2"
      },
      {
        "slug": "cep152",
        "symbol": "CEP152",
        "name": "centrosomal protein 152",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cep152"
      },
      {
        "slug": "cit",
        "symbol": "CIT",
        "name": "citron rho-interacting serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cit"
      },
      {
        "slug": "cpap",
        "symbol": "CPAP",
        "name": "centrosome assembly and centriole elongation protein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cpap"
      },
      {
        "slug": "kif14",
        "symbol": "KIF14",
        "name": "kinesin family member 14",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kif14"
      },
      {
        "slug": "knl1",
        "symbol": "KNL1",
        "name": "kinetochore scaffold 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/knl1"
      },
      {
        "slug": "mcph1",
        "symbol": "MCPH1",
        "name": "microcephalin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mcph1"
      },
      {
        "slug": "mfsd2a",
        "symbol": "MFSD2A",
        "name": "MFSD2 lysolipid transporter A, lysophospholipid",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mfsd2a"
      },
      {
        "slug": "ncapd2",
        "symbol": "NCAPD2",
        "name": "non-SMC condensin I complex subunit D2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ncapd2"
      },
      {
        "slug": "pdcd6ip",
        "symbol": "PDCD6IP",
        "name": "programmed cell death 6 interacting protein",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pdcd6ip"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}