{
  "url": "https://dantelabs.com/et/genes/slc18a3",
  "gene": {
    "slug": "slc18a3",
    "symbol": "SLC18A3",
    "name": "solute carrier family 18 member A3",
    "hgnc": "HGNC:10936",
    "summary": null,
    "location": "10q11.23",
    "locusType": "gene with protein product",
    "aliases": [
      "VACHT"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000187714",
    "entrezId": 6572,
    "omim": [
      "600336"
    ],
    "uniprot": [
      "Q16572"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 49610310,
      "end": 49612720,
      "strand": "+",
      "ensemblTranscript": "ENST00000374115.5",
      "refseqTranscript": "NM_003055.3",
      "ensemblProtein": "ENSP00000363229.3",
      "refseqProtein": "NP_003046.2",
      "exons": [
        {
          "start": 49610310,
          "end": 49612720
        }
      ],
      "cds": {
        "start": 49610741,
        "end": 49612339
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 50818347,
      "end": 50820765,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49111515,
      "end": 50111514,
      "genes": [
        {
          "symbol": "VSTM4",
          "ensemblId": "ENSG00000165633",
          "biotype": "protein_coding",
          "start": 49014236,
          "end": 49115555,
          "strand": "-",
          "slug": "vstm4"
        },
        {
          "symbol": "FAM170B",
          "ensemblId": "ENSG00000172538",
          "biotype": "protein_coding",
          "start": 49131154,
          "end": 49134021,
          "strand": "-",
          "slug": "fam170b"
        },
        {
          "symbol": "TMEM273",
          "ensemblId": "ENSG00000204161",
          "biotype": "protein_coding",
          "start": 49153753,
          "end": 49188585,
          "strand": "-",
          "slug": "tmem273"
        },
        {
          "symbol": "C10orf71",
          "ensemblId": "ENSG00000177354",
          "biotype": "protein_coding",
          "start": 49299137,
          "end": 49329924,
          "strand": "+",
          "slug": "c10orf71"
        },
        {
          "symbol": "DRGX",
          "ensemblId": "ENSG00000165606",
          "biotype": "protein_coding",
          "start": 49364065,
          "end": 49398484,
          "strand": "-",
          "slug": "drgx"
        },
        {
          "symbol": "ERCC6",
          "ensemblId": "ENSG00000225830",
          "biotype": "protein_coding",
          "start": 49454168,
          "end": 49539538,
          "strand": "-",
          "slug": "ercc6"
        },
        {
          "symbol": "CHAT",
          "ensemblId": "ENSG00000070748",
          "biotype": "protein_coding",
          "start": 49609095,
          "end": 49667942,
          "strand": "+",
          "slug": "chat"
        },
        {
          "symbol": "C10orf53",
          "ensemblId": "ENSG00000178645",
          "biotype": "protein_coding",
          "start": 49679638,
          "end": 49710261,
          "strand": "+",
          "slug": "c10orf53"
        },
        {
          "symbol": "OGDHL",
          "ensemblId": "ENSG00000197444",
          "biotype": "protein_coding",
          "start": 49721386,
          "end": 49762392,
          "strand": "-",
          "slug": "ogdhl"
        },
        {
          "symbol": "PARG",
          "ensemblId": "ENSG00000227345",
          "biotype": "protein_coding",
          "start": 49815132,
          "end": 49970203,
          "strand": "-",
          "slug": "parg"
        },
        {
          "symbol": "TIMM23B",
          "ensemblId": "ENSG00000204152",
          "biotype": "protein_coding",
          "start": 49942031,
          "end": 49977625,
          "strand": "+",
          "slug": "timm23b"
        },
        {
          "symbol": "TIMM23B-AGAP6",
          "ensemblId": "ENSG00000178440",
          "biotype": "protein_coding",
          "start": 49942056,
          "end": 50011654,
          "strand": "+",
          "slug": "timm23b-agap6"
        },
        {
          "symbol": "AGAP6",
          "ensemblId": "ENSG00000204149",
          "biotype": "protein_coding",
          "start": 49982190,
          "end": 50011654,
          "strand": "+",
          "slug": "agap6"
        },
        {
          "symbol": "WASHC2A",
          "ensemblId": "ENSG00000099290",
          "biotype": "protein_coding",
          "start": 50067881,
          "end": 50136578,
          "strand": "+",
          "slug": "washc2a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myasthenic-syndrome",
        "name": "Kongenitaalne müasteeniline sündroom",
        "diseases": [
          {
            "mondoId": "MONDO:0018940",
            "name": "Kaasasündinud müasteenilised sündroomid (kõik tüübid)",
            "genes": 27,
            "inheritance": null,
            "description": "Üldmõiste, mis hõlmab kõiki kaasasündinud müasteenilisi sündroome, sealhulgas levinumaid CHRNE, RAPSN, DOK7 ja MUSK vorme.",
            "management": "Paljud vormid reageerivad konkreetsetele ravimitele, nagu püridostigmiin, salbutamool või efedriin, ning sobiv valik sõltub asjaomasest geenist.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/congenital-myasthenic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "absent-palmar-crease",
        "name": "Absent palm lines",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-palmar-crease"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "fatigable-weakness-of-skeletal-muscles",
        "name": "Fatigable weakness of skeletal muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-skeletal-muscles"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "hyperintensity-of-cerebral-white-matter-on-mri",
        "name": "Hyperintensity of cerebral white matter on MRI",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperintensity-of-cerebral-white-matter-on-mri"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "meconium-ileus",
        "name": "Meconium ileus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/meconium-ileus"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "intestinal-hypoplasia",
        "name": "Underdeveloped instestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intestinal-hypoplasia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "agrn",
        "symbol": "AGRN",
        "name": "agrin",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/agrn"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/alg2"
      },
      {
        "slug": "chat",
        "symbol": "CHAT",
        "name": "choline O-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chat"
      },
      {
        "slug": "chrna1",
        "symbol": "CHRNA1",
        "name": "cholinergic receptor nicotinic alpha 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chrna1"
      },
      {
        "slug": "chrnb1",
        "symbol": "CHRNB1",
        "name": "cholinergic receptor nicotinic beta 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chrnb1"
      },
      {
        "slug": "chrnd",
        "symbol": "CHRND",
        "name": "cholinergic receptor nicotinic delta subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chrnd"
      },
      {
        "slug": "chrne",
        "symbol": "CHRNE",
        "name": "cholinergic receptor nicotinic epsilon subunit",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/chrne"
      },
      {
        "slug": "col13a1",
        "symbol": "COL13A1",
        "name": "collagen type XIII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/col13a1"
      },
      {
        "slug": "colq",
        "symbol": "COLQ",
        "name": "collagen like tail subunit of asymmetric acetylcholinesterase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/colq"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "name": "docking protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dok7"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dpagt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}