{
  "url": "https://dantelabs.com/fr/genes/cnot1",
  "gene": {
    "slug": "cnot1",
    "symbol": "CNOT1",
    "name": "CCR4-NOT transcription complex subunit 1",
    "hgnc": "HGNC:7877",
    "summary": null,
    "location": "16q21",
    "locusType": "gene with protein product",
    "aliases": [
      "CDC39",
      "NOT1H",
      "KIAA1007",
      "AD-005"
    ],
    "previousSymbols": [
      "NOT1"
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    "ensemblId": "ENSG00000125107",
    "entrezId": 23019,
    "omim": [
      "604917"
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    "uniprot": [
      "A5YKK6"
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      "release": "v1.5",
      "chrom": "16",
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      "ensemblTranscript": "ENST00000317147.10",
      "refseqTranscript": "NM_016284.5",
      "ensemblProtein": "ENSP00000320949.5",
      "refseqProtein": "NP_057368.3",
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    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
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      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "CFAP20",
          "ensemblId": "ENSG00000070761",
          "biotype": "protein_coding",
          "start": 58113167,
          "end": 58129429,
          "strand": "-",
          "slug": "cfap20"
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        {
          "symbol": "CSNK2A2",
          "ensemblId": "ENSG00000070770",
          "biotype": "protein_coding",
          "start": 58157907,
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          "strand": "-",
          "slug": "csnk2a2"
        },
        {
          "symbol": "CFAP263",
          "ensemblId": "ENSG00000103021",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cfap263"
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        {
          "symbol": "PRSS54",
          "ensemblId": "ENSG00000103023",
          "biotype": "protein_coding",
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        {
          "symbol": "GINS3",
          "ensemblId": "ENSG00000181938",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "gins3"
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        {
          "symbol": "NDRG4",
          "ensemblId": "ENSG00000103034",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ndrg4"
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        {
          "symbol": "SETD6",
          "ensemblId": "ENSG00000103037",
          "biotype": "protein_coding",
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          "end": 58523842,
          "strand": "+",
          "slug": "setd6"
        },
        {
          "symbol": "SLC38A7",
          "ensemblId": "ENSG00000103042",
          "biotype": "protein_coding",
          "start": 58663015,
          "end": 58684770,
          "strand": "-",
          "slug": "slc38a7"
        },
        {
          "symbol": "GOT2",
          "ensemblId": "ENSG00000125166",
          "biotype": "protein_coding",
          "start": 58686133,
          "end": 58734366,
          "strand": "-",
          "slug": "got2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "non-acquired-combined-pituitary-hormone-deficiency",
        "name": "Déficit hypophysaire combiné non acquis",
        "diseases": [
          {
            "mondoId": "MONDO:0018762",
            "name": "Déficit hypophysaire combiné non acquis",
            "genes": 15,
            "inheritance": null,
            "description": "L'hypopituitarisme congénital se caractérise par un déficit combiné en hormones hypophysaires, touchant notamment les lignées somatotrope, thyréotrope, lactotrope, corticotrope ou gonadotrope, provoqué par des mutations de facteurs de transcription impliqués dans le développement de l'hypophyse.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/non-acquired-combined-pituitary-hormone-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-brain-morphology",
        "name": "Abnormal shape of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brain-morphology"
      },
      {
        "slug": "abnormal-external-nose-morphology",
        "name": "Abnormality of the external nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-external-nose-morphology"
      },
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "absent-gallbladder",
        "name": "Absent gallbladder",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-gallbladder"
      },
      {
        "slug": "pancreatic-aplasia",
        "name": "Absent pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancreatic-aplasia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-phalanges-of-the-thumb",
        "name": "Absent/small thumb bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-phalanges-of-the-thumb"
      },
      {
        "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": "hypoplasia-of-the-zygomatic-bone",
        "name": "Cheekbone underdevelopment",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-zygomatic-bone"
      },
      {
        "slug": "decreased-circulating-c-peptide-concentration",
        "name": "Decreased circulating C-peptide concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-c-peptide-concentration"
      },
      {
        "slug": "decreased-circulating-lipoprotein-lipase-concentration",
        "name": "Decreased circulating lipoprotein lipase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-lipoprotein-lipase-concentration"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "hypoamylasemia",
        "name": "Hypoamylasemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoamylasemia"
      },
      {
        "slug": "hypoxemia",
        "name": "Low blood oxygen level",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoxemia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "neonatal-insulin-dependent-diabetes-mellitus",
        "name": "Neonatal insulin-dependent diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neonatal-insulin-dependent-diabetes-mellitus"
      },
      {
        "slug": "solitary-median-maxillary-central-incisor",
        "name": "Only one upper front tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/solitary-median-maxillary-central-incisor"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-occiput",
        "name": "Prominent back of the head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-occiput"
      },
      {
        "slug": "semilobar-holoprosencephaly",
        "name": "Semilobar holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/semilobar-holoprosencephaly"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      }
    ],
    "related": [
      {
        "slug": "cdon",
        "symbol": "CDON",
        "name": "cell adhesion associated, oncogene regulated",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cdon"
      },
      {
        "slug": "disp1",
        "symbol": "DISP1",
        "name": "dispatched RND transporter family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/disp1"
      },
      {
        "slug": "gli2",
        "symbol": "GLI2",
        "name": "GLI family zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/gli2"
      },
      {
        "slug": "gli3",
        "symbol": "GLI3",
        "name": "GLI family zinc finger 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/gli3"
      },
      {
        "slug": "lhx3",
        "symbol": "LHX3",
        "name": "LIM homeobox 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/lhx3"
      },
      {
        "slug": "lhx4",
        "symbol": "LHX4",
        "name": "LIM homeobox 4",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/lhx4"
      },
      {
        "slug": "plch1",
        "symbol": "PLCH1",
        "name": "phospholipase C eta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/plch1"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "name": "patched 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ptch1"
      },
      {
        "slug": "rbm28",
        "symbol": "RBM28",
        "name": "RNA binding motif protein 28",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/rbm28"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "name": "sonic hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/shh"
      },
      {
        "slug": "six3",
        "symbol": "SIX3",
        "name": "SIX homeobox 3",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/six3"
      },
      {
        "slug": "smo",
        "symbol": "SMO",
        "name": "smoothened, frizzled class receptor",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/smo"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}