{
  "url": "https://dantelabs.com/el/genes/chrnd",
  "gene": {
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    "symbol": "CHRND",
    "name": "cholinergic receptor nicotinic delta subunit",
    "hgnc": "HGNC:1965",
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    "location": "2q37.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
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    "uniprot": [
      "Q07001"
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      "release": "v1.5",
      "chrom": "2",
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      "strand": "+",
      "ensemblTranscript": "ENST00000258385.8",
      "refseqTranscript": "NM_000751.3",
      "ensemblProtein": "ENSP00000258385.3",
      "refseqProtein": "NP_000742.1",
      "exons": [
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      ],
      "cds": {
        "start": 232526216,
        "end": 232535312
      }
    },
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      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 233390703,
      "end": 233401377,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 232031412,
      "end": 233031411,
      "genes": [
        {
          "symbol": "DIS3L2",
          "ensemblId": "ENSG00000144535",
          "biotype": "protein_coding",
          "start": 231961245,
          "end": 232344350,
          "strand": "+",
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        },
        {
          "symbol": "ALPP",
          "ensemblId": "ENSG00000163283",
          "biotype": "protein_coding",
          "start": 232378724,
          "end": 232382889,
          "strand": "+",
          "slug": "alpp"
        },
        {
          "symbol": "ALPG",
          "ensemblId": "ENSG00000163286",
          "biotype": "protein_coding",
          "start": 232406837,
          "end": 232410714,
          "strand": "+",
          "slug": "alpg"
        },
        {
          "symbol": "ALPI",
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          "biotype": "protein_coding",
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          "end": 232460753,
          "strand": "+",
          "slug": "alpi"
        },
        {
          "symbol": "ECEL1",
          "ensemblId": "ENSG00000171551",
          "biotype": "protein_coding",
          "start": 232479825,
          "end": 232489045,
          "strand": "-",
          "slug": "ecel1"
        },
        {
          "symbol": "PRSS56",
          "ensemblId": "ENSG00000237412",
          "biotype": "protein_coding",
          "start": 232520388,
          "end": 232525716,
          "strand": "+",
          "slug": "prss56"
        },
        {
          "symbol": "CHRNG",
          "ensemblId": "ENSG00000196811",
          "biotype": "protein_coding",
          "start": 232539692,
          "end": 232548115,
          "strand": "+",
          "slug": "chrng"
        },
        {
          "symbol": "TIGD1",
          "ensemblId": "ENSG00000221944",
          "biotype": "protein_coding",
          "start": 232543883,
          "end": 232550557,
          "strand": "-",
          "slug": "tigd1"
        },
        {
          "symbol": "EIF4E2",
          "ensemblId": "ENSG00000135930",
          "biotype": "protein_coding",
          "start": 232550633,
          "end": 232585201,
          "strand": "+",
          "slug": "eif4e2"
        },
        {
          "symbol": "EFHD1",
          "ensemblId": "ENSG00000115468",
          "biotype": "protein_coding",
          "start": 232606057,
          "end": 232682781,
          "strand": "+",
          "slug": "efhd1"
        },
        {
          "symbol": "GIGYF2",
          "ensemblId": "ENSG00000204120",
          "biotype": "protein_coding",
          "start": 232697259,
          "end": 232863338,
          "strand": "+",
          "slug": "gigyf2"
        },
        {
          "symbol": "KCNJ13",
          "ensemblId": "ENSG00000115474",
          "biotype": "protein_coding",
          "start": 232765802,
          "end": 232776566,
          "strand": "-",
          "slug": "kcnj13"
        },
        {
          "symbol": "SNORC",
          "ensemblId": "ENSG00000182600",
          "biotype": "protein_coding",
          "start": 232857270,
          "end": 232878708,
          "strand": "+",
          "slug": "snorc"
        },
        {
          "symbol": "NGEF",
          "ensemblId": "ENSG00000066248",
          "biotype": "protein_coding",
          "start": 232878686,
          "end": 233013263,
          "strand": "-",
          "slug": "ngef"
        },
        {
          "symbol": "NEU2",
          "ensemblId": "ENSG00000115488",
          "biotype": "protein_coding",
          "start": 233023032,
          "end": 233042480,
          "strand": "+",
          "slug": "neu2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myasthenic-syndrome",
        "name": "Συγγενές μυασθενικό σύνδρομο",
        "diseases": [
          {
            "mondoId": "MONDO:0018940",
            "name": "Συγγενές Μυασθενικό Σύνδρομο (Όλοι οι Τύποι)",
            "genes": 27,
            "inheritance": null,
            "description": "Γενικός όρος που περιλαμβάνει όλα τα συγγενή μυασθενικά σύνδρομα, συμπεριλαμβανομένων των συχνών μορφών CHRNE, RAPSN, DOK7 και MUSK.",
            "management": "Πολλές μορφές ανταποκρίνονται σε συγκεκριμένα φάρμακα, όπως η πυριδοστιγμίνη, η σαλβουταμόλη ή η εφεδρίνη, και η κατάλληλη επιλογή εξαρτάται από το εμπλεκόμενο γονίδιο.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/congenital-myasthenic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-cervical-curvature",
        "name": "Abnormal neck curve",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cervical-curvature"
      },
      {
        "slug": "amyoplasia",
        "name": "Absent muscles since birth",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/amyoplasia"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "decreased-miniature-endplate-potentials",
        "name": "Decreased miniature endplate potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-miniature-endplate-potentials"
      },
      {
        "slug": "delayed-ability-to-sit",
        "name": "Delayed ability to sit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-sit"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation",
        "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "fatigable-weakness",
        "name": "Fatigable weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigable-weakness"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "increased-muscle-fatiguability",
        "name": "Increased muscle fatiguability",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-muscle-fatiguability"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "malignant-hyperthermia",
        "name": "Malignant hyperthermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/malignant-hyperthermia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multiple-pterygia",
        "name": "Multiple pterygia",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/multiple-pterygia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prolonged-miniature-endplate-currents",
        "name": "Prolonged miniature endplate currents",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-miniature-endplate-currents"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "short-finger",
        "name": "Short finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-finger"
      },
      {
        "slug": "thin-ribs",
        "name": "Thin ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thin-ribs"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "hypoplastic-ventricle",
        "name": "Underdeveloped cardiac ventricle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-ventricle"
      },
      {
        "slug": "vertebral-fusion",
        "name": "Vertebral fusion",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/vertebral-fusion"
      },
      {
        "slug": "weak-cry",
        "name": "Weak cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/weak-cry"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "agrn",
        "symbol": "AGRN",
        "name": "agrin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/agrn"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alg2"
      },
      {
        "slug": "chat",
        "symbol": "CHAT",
        "name": "choline O-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/chat"
      },
      {
        "slug": "chrna1",
        "symbol": "CHRNA1",
        "name": "cholinergic receptor nicotinic alpha 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/chrna1"
      },
      {
        "slug": "chrnb1",
        "symbol": "CHRNB1",
        "name": "cholinergic receptor nicotinic beta 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/chrnb1"
      },
      {
        "slug": "chrne",
        "symbol": "CHRNE",
        "name": "cholinergic receptor nicotinic epsilon subunit",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/chrne"
      },
      {
        "slug": "col13a1",
        "symbol": "COL13A1",
        "name": "collagen type XIII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col13a1"
      },
      {
        "slug": "colq",
        "symbol": "COLQ",
        "name": "collagen like tail subunit of asymmetric acetylcholinesterase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/colq"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "name": "docking protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dok7"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dpagt1"
      },
      {
        "slug": "gfpt1",
        "symbol": "GFPT1",
        "name": "glutamine--fructose-6-phosphate transaminase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gfpt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}