{
  "url": "https://dantelabs.com/fr/genes/cep85l",
  "gene": {
    "slug": "cep85l",
    "symbol": "CEP85L",
    "name": "centrosomal protein 85L",
    "hgnc": "HGNC:21638",
    "summary": null,
    "location": "6q22.31",
    "locusType": "gene with protein product",
    "aliases": [
      "NY-BR-15",
      "bA57K17.2"
    ],
    "previousSymbols": [
      "C6orf204"
    ],
    "ensemblId": "ENSG00000111860",
    "entrezId": 387119,
    "omim": [
      "618865"
    ],
    "uniprot": [
      "Q5SZL2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 118460772,
      "end": 118651591,
      "strand": "-",
      "ensemblTranscript": "ENST00000368491.8",
      "refseqTranscript": "NM_001042475.3",
      "ensemblProtein": "ENSP00000357477.3",
      "refseqProtein": "NP_001035940.1",
      "exons": [
        {
          "start": 118460772,
          "end": 118465568
        },
        {
          "start": 118469072,
          "end": 118469303
        },
        {
          "start": 118470537,
          "end": 118470644
        },
        {
          "start": 118479871,
          "end": 118479921
        },
        {
          "start": 118480396,
          "end": 118480513
        },
        {
          "start": 118481779,
          "end": 118481933
        },
        {
          "start": 118483706,
          "end": 118483858
        },
        {
          "start": 118491686,
          "end": 118491865
        },
        {
          "start": 118511298,
          "end": 118511415
        },
        {
          "start": 118523802,
          "end": 118523920
        },
        {
          "start": 118565529,
          "end": 118566316
        },
        {
          "start": 118632453,
          "end": 118632611
        },
        {
          "start": 118651197,
          "end": 118651591
        }
      ],
      "cds": {
        "start": 118465405,
        "end": 118651269
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 118781935,
      "end": 119031238,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 118056182,
      "end": 119056181,
      "genes": [
        {
          "symbol": "SLC35F1",
          "ensemblId": "ENSG00000196376",
          "biotype": "protein_coding",
          "start": 117907264,
          "end": 118318566,
          "strand": "+",
          "slug": "slc35f1"
        },
        {
          "symbol": "PLN",
          "ensemblId": "ENSG00000198523",
          "biotype": "protein_coding",
          "start": 118506292,
          "end": 118562853,
          "strand": "+",
          "slug": "pln"
        },
        {
          "symbol": "MCM9",
          "ensemblId": "ENSG00000111877",
          "biotype": "protein_coding",
          "start": 118813260,
          "end": 118935170,
          "strand": "-",
          "slug": "mcm9"
        },
        {
          "symbol": "ASF1A",
          "ensemblId": "ENSG00000111875",
          "biotype": "protein_coding",
          "start": 118894020,
          "end": 118909264,
          "strand": "+",
          "slug": "asf1a"
        },
        {
          "symbol": "FAM184A",
          "ensemblId": "ENSG00000111879",
          "biotype": "protein_coding",
          "start": 118957707,
          "end": 119149387,
          "strand": "-",
          "slug": "fam184a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "lissencephaly-spectrum-disorders",
        "name": "Troubles du spectre de la lissencéphalie",
        "diseases": [
          {
            "mondoId": "MONDO:0030031",
            "name": "Lissencéphalie 10",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Causée par une modification d'une copie du gène CEP85L, une protéine impliquée dans la migration des cellules nerveuses. Les modifications peuvent survenir de novo ou être héritées, et la gravité varie.",
            "management": "Accompagnement du développement et traitement des crises épileptiques. Certains porteurs étant légèrement touchés, le conseil génétique et le test des parents sont utiles.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018838",
            "name": "Troubles du spectre de la lissencéphalie",
            "genes": 23,
            "inheritance": null,
            "description": "Causés par des modifications dans les gènes qui contrôlent la migration des cellules nerveuses vers leur position dans le cerveau en développement. Ce rapport comprend DCX, situé sur le chromosome X, et APC2 (récessif).",
            "management": "La prise en charge porte sur le contrôle des crises épileptiques, l'alimentation et la nutrition, la kinésithérapie et l'accompagnement du développement. Le conseil génétique dépend du gène concerné : les modifications dominantes surviennent souvent de novo, DCX peut être transmis par une mère porteuse, et les formes récessives sont transmises lorsque les deux parents sont porteurs.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/lissencephaly-spectrum-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-hippocampus-morphology",
        "name": "Abnormal hippocampus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-hippocampus-morphology"
      },
      {
        "slug": "abnormality-of-the-anterior-commissure",
        "name": "Abnormality of the anterior commissure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-anterior-commissure"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellum",
        "name": "Absent/small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "agyria",
        "name": "Agyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agyria"
      },
      {
        "slug": "atypical-absence-seizure",
        "name": "Atypical absence seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-absence-seizure"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-focal-onset",
        "name": "Bilateral tonic-clonic seizure with focal onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset"
      },
      {
        "slug": "bipolar-affective-disorder",
        "name": "Bipolar disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bipolar-affective-disorder"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "facial-asymmetry",
        "name": "Facial asymmetry",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-asymmetry"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "auditory-hallucination",
        "name": "Hallucinations of sound",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/auditory-hallucination"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "neurogenic-bladder",
        "name": "Lack of bladder control due to nervous system injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neurogenic-bladder"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "mild-microcephaly",
        "name": "Mild microcephaly",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-microcephaly"
      },
      {
        "slug": "myoclonic-seizure",
        "name": "Myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "posterior-predominant-subcortical-band-heterotopia",
        "name": "Posterior predominant subcortical band heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-predominant-subcortical-band-heterotopia"
      },
      {
        "slug": "motor-stereotypy",
        "name": "Repetitive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-stereotypy"
      },
      {
        "slug": "atonic-seizure",
        "name": "Sudden loss of muscle tone",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atonic-seizure"
      },
      {
        "slug": "suicidal-ideation",
        "name": "Suicidal ideation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/suicidal-ideation"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "tonic-seizure",
        "name": "Tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tonic-seizure"
      },
      {
        "slug": "visual-agnosia",
        "name": "Visual agnosia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-agnosia"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/actb"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/actg1"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "name": "APC regulator of Wnt signaling pathway 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/apc2"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/arx"
      },
      {
        "slug": "cdk5",
        "symbol": "CDK5",
        "name": "cyclin dependent kinase 5",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cdk5"
      },
      {
        "slug": "ctnna2",
        "symbol": "CTNNA2",
        "name": "catenin alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ctnna2"
      },
      {
        "slug": "dcx",
        "symbol": "DCX",
        "name": "doublecortin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dcx"
      },
      {
        "slug": "katnb1",
        "symbol": "KATNB1",
        "name": "katanin regulatory subunit B1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/katnb1"
      },
      {
        "slug": "lamb1",
        "symbol": "LAMB1",
        "name": "laminin subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/lamb1"
      },
      {
        "slug": "macf1",
        "symbol": "MACF1",
        "name": "microtubule actin crosslinking factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/macf1"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "name": "nudE neurodevelopment protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/nde1"
      },
      {
        "slug": "pafah1b1",
        "symbol": "PAFAH1B1",
        "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/pafah1b1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}