{
  "url": "https://dantelabs.com/el/genes/slc18a2",
  "gene": {
    "slug": "slc18a2",
    "symbol": "SLC18A2",
    "name": "solute carrier family 18 member A2",
    "hgnc": "HGNC:10935",
    "summary": null,
    "location": "10q25.3",
    "locusType": "gene with protein product",
    "aliases": [
      "SVMT",
      "SVAT",
      "VAT2"
    ],
    "previousSymbols": [
      "VMAT2"
    ],
    "ensemblId": "ENSG00000165646",
    "entrezId": 6571,
    "omim": [
      "193001"
    ],
    "uniprot": [
      "Q05940"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "10",
      "start": 117241114,
      "end": 117279430,
      "strand": "+",
      "ensemblTranscript": "ENST00000644641.2",
      "refseqTranscript": "NM_003054.6",
      "ensemblProtein": "ENSP00000496339.1",
      "refseqProtein": "NP_003045.2",
      "exons": [
        {
          "start": 117241114,
          "end": 117241220
        },
        {
          "start": 117241679,
          "end": 117241814
        },
        {
          "start": 117243971,
          "end": 117244313
        },
        {
          "start": 117253399,
          "end": 117253457
        },
        {
          "start": 117254048,
          "end": 117254131
        },
        {
          "start": 117254405,
          "end": 117254497
        },
        {
          "start": 117255277,
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        },
        {
          "start": 117255479,
          "end": 117255522
        },
        {
          "start": 117255597,
          "end": 117255657
        },
        {
          "start": 117257797,
          "end": 117257892
        },
        {
          "start": 117266733,
          "end": 117266811
        },
        {
          "start": 117266984,
          "end": 117267035
        },
        {
          "start": 117267673,
          "end": 117267736
        },
        {
          "start": 117270071,
          "end": 117270190
        },
        {
          "start": 117270330,
          "end": 117270463
        },
        {
          "start": 117277162,
          "end": 117279430
        }
      ],
      "cds": {
        "start": 117241694,
        "end": 117277266
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
      "start": 119000604,
      "end": 119038941,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 116760272,
      "end": 117760271,
      "genes": [
        {
          "symbol": "HSPA12A",
          "ensemblId": "ENSG00000165868",
          "biotype": "protein_coding",
          "start": 116671192,
          "end": 116850251,
          "strand": "-",
          "slug": "hspa12a"
        },
        {
          "symbol": "ENO4",
          "ensemblId": "ENSG00000188316",
          "biotype": "protein_coding",
          "start": 116849481,
          "end": 116911788,
          "strand": "+",
          "slug": "eno4"
        },
        {
          "symbol": "SHTN1",
          "ensemblId": "ENSG00000187164",
          "biotype": "protein_coding",
          "start": 116881477,
          "end": 117126586,
          "strand": "-",
          "slug": "shtn1"
        },
        {
          "symbol": "VAX1",
          "ensemblId": "ENSG00000148704",
          "biotype": "protein_coding",
          "start": 117128521,
          "end": 117138629,
          "strand": "-",
          "slug": "vax1"
        },
        {
          "symbol": "KCNK18",
          "ensemblId": "ENSG00000186795",
          "biotype": "protein_coding",
          "start": 117196957,
          "end": 117210752,
          "strand": "+",
          "slug": "kcnk18"
        },
        {
          "symbol": "PDZD8",
          "ensemblId": "ENSG00000165650",
          "biotype": "protein_coding",
          "start": 117277274,
          "end": 117376020,
          "strand": "-",
          "slug": "pdzd8"
        },
        {
          "symbol": "EMX2",
          "ensemblId": "ENSG00000170370",
          "biotype": "protein_coding",
          "start": 117542445,
          "end": 117549546,
          "strand": "+",
          "slug": "emx2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "bh4-deficiency-and-neurotransmitter-disorders",
        "name": "Διαταραχές έλλειψης BH4 και μονοαμινικών νευροδιαβιβαστών",
        "diseases": [
          {
            "mondoId": "MONDO:0019219",
            "name": "Εγγενείς διαταραχές του μεταβολισμού και της μεταφοράς νευροδιαβιβαστών",
            "genes": 5,
            "inheritance": null,
            "description": "Περιλαμβάνει την έλλειψη αρωματικής L-αμινοξικής αποκαρβοξυλάσης (AADC), την έλλειψη τυροσινικής υδροξυλάσης και τη νόσο του κυστιδιακού μεταφορέα μονοαμινών (SLC18A2), οι οποίες μπορούν να προκαλέσουν κινητικές διαταραχές, χαμηλό μυϊκό τόνο και καθυστέρηση ανάπτυξης.",
            "management": "Η γνώση επιτρέπει στοχευμένη θεραπεία, όπως L-ντόπα για έλλειψη τυροσινικής υδροξυλάσης ή γονιδιακή θεραπεία για έλλειψη AADC.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/bh4-deficiency-and-neurotransmitter-disorders"
      },
      {
        "slug": "dystonia-myotonia-paroxysmal-dyskinesia",
        "name": "Δυστονία, Μυοτονία, Παροξυσμική Δυσκινησία",
        "diseases": [
          {
            "mondoId": "MONDO:0044807",
            "name": "Κληρονομική δυστονία",
            "genes": 34,
            "inheritance": null,
            "description": "Γενικός όρος που περιλαμβάνει κληρονομικές δυστονίες, όπως η γενικευμένη δυστονία με έναρξη σε νεαρή ηλικία DYT-TOR1A, η DYT-THAP1, η μυοκλονική δυστονία (SGCE) και η δυστονία που σχετίζεται με το KMT2B.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/dystonia-myotonia-paroxysmal-dyskinesia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-autonomic-nervous-system-physiology",
        "name": "Abnormal autonomic nervous system physiology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology"
      },
      {
        "slug": "abnormal-foot-morphology",
        "name": "Abnormal feet structure",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-foot-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormality-of-coordination",
        "name": "Abnormality of coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coordination"
      },
      {
        "slug": "abnormality-of-eye-movement",
        "name": "Abnormality of eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-eye-movement"
      },
      {
        "slug": "abnormality-of-the-vasculature",
        "name": "Abnormality of the vasculature",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-vasculature"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "hypomimic-face",
        "name": "Decreased facial expressions",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypomimic-face"
      },
      {
        "slug": "decreased-urinary-dopamine-level",
        "name": "Decreased urinary dopamine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-urinary-dopamine-level"
      },
      {
        "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": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-urinary-5-hydroxyindoleacetic-acid-level",
        "name": "Elevated urinary 5-hydroxyindoleacetic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-5-hydroxyindoleacetic-acid-level"
      },
      {
        "slug": "elevated-urinary-homovanillic-acid",
        "name": "Elevated urinary homovanillic acid",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-homovanillic-acid"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "inappropriate-crying",
        "name": "Inappropriate crying",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/inappropriate-crying"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "stridor",
        "name": "Noisy breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/stridor"
      },
      {
        "slug": "oculogyric-crisis",
        "name": "Oculogyric crisis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oculogyric-crisis"
      },
      {
        "slug": "orofacial-dyskinesia",
        "name": "Orofacial dyskinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/orofacial-dyskinesia"
      },
      {
        "slug": "parkinsonism",
        "name": "Parkinsonism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/parkinsonism"
      },
      {
        "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": "shuffling-gait",
        "name": "Shuffled walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/shuffling-gait"
      },
      {
        "slug": "spastic-tetraparesis",
        "name": "Spastic tetraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraparesis"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "stooped-posture",
        "name": "Stooped posture",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stooped-posture"
      },
      {
        "slug": "temperature-instability",
        "name": "Temperature instability",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/temperature-instability"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tremor"
      }
    ],
    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/actb"
      },
      {
        "slug": "ano3",
        "symbol": "ANO3",
        "name": "anoctamin 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ano3"
      },
      {
        "slug": "arfgef3",
        "symbol": "ARFGEF3",
        "name": "ARFGEF family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arfgef3"
      },
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp1a3"
      },
      {
        "slug": "bcap31",
        "symbol": "BCAP31",
        "name": "B cell receptor associated protein 31",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bcap31"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col6a3"
      },
      {
        "slug": "dbh",
        "symbol": "DBH",
        "name": "dopamine beta-hydroxylase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dbh"
      },
      {
        "slug": "dcaf17",
        "symbol": "DCAF17",
        "name": "DDB1 and CUL4 associated factor 17",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dcaf17"
      },
      {
        "slug": "ddc",
        "symbol": "DDC",
        "name": "dopa decarboxylase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ddc"
      },
      {
        "slug": "gch1",
        "symbol": "GCH1",
        "name": "GTP cyclohydrolase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gch1"
      },
      {
        "slug": "gnal",
        "symbol": "GNAL",
        "name": "G protein subunit alpha L",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gnal"
      },
      {
        "slug": "hpca",
        "symbol": "HPCA",
        "name": "hippocalcin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/hpca"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
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