{
  "url": "https://dantelabs.com/lt/genes/syt2",
  "gene": {
    "slug": "syt2",
    "symbol": "SYT2",
    "name": "synaptotagmin 2",
    "hgnc": "HGNC:11510",
    "summary": null,
    "location": "1q32.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000143858",
    "entrezId": 127833,
    "omim": [
      "600104"
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    "uniprot": [
      "Q8N9I0"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
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      "end": 202710454,
      "strand": "-",
      "ensemblTranscript": "ENST00000367268.5",
      "refseqTranscript": "NM_177402.5",
      "ensemblProtein": "ENSP00000356237.4",
      "refseqProtein": "NP_796376.2",
      "exons": [
        {
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        },
        {
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      ],
      "cds": {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
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      "end": 202679545,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 202150525,
      "end": 203150524,
      "genes": [
        {
          "symbol": "PTPN7",
          "ensemblId": "ENSG00000143851",
          "biotype": "protein_coding",
          "start": 202147012,
          "end": 202161588,
          "strand": "-",
          "slug": "ptpn7"
        },
        {
          "symbol": "LGR6",
          "ensemblId": "ENSG00000133067",
          "biotype": "protein_coding",
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          "end": 202321660,
          "strand": "+",
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        {
          "symbol": "UBE2T",
          "ensemblId": "ENSG00000077152",
          "biotype": "protein_coding",
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          "end": 202341984,
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          "slug": "ube2t"
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        {
          "symbol": "PPP1R12B",
          "ensemblId": "ENSG00000077157",
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        {
          "symbol": "KDM5B",
          "ensemblId": "ENSG00000117139",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "kdm5b"
        },
        {
          "symbol": "RABIF",
          "ensemblId": "ENSG00000183155",
          "biotype": "protein_coding",
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          "end": 202889227,
          "strand": "-",
          "slug": "rabif"
        },
        {
          "symbol": "KLHL12",
          "ensemblId": "ENSG00000117153",
          "biotype": "protein_coding",
          "start": 202890852,
          "end": 202928636,
          "strand": "-",
          "slug": "klhl12"
        },
        {
          "symbol": "ADIPOR1",
          "ensemblId": "ENSG00000159346",
          "biotype": "protein_coding",
          "start": 202940090,
          "end": 202958779,
          "strand": "-",
          "slug": "adipor1"
        },
        {
          "symbol": "CYB5R1",
          "ensemblId": "ENSG00000159348",
          "biotype": "protein_coding",
          "start": 202961118,
          "end": 202967287,
          "strand": "-",
          "slug": "cyb5r1"
        },
        {
          "symbol": "TMEM183A",
          "ensemblId": "ENSG00000163444",
          "biotype": "protein_coding",
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          "end": 203025368,
          "strand": "+",
          "slug": "tmem183a"
        },
        {
          "symbol": "PPFIA4",
          "ensemblId": "ENSG00000143847",
          "biotype": "protein_coding",
          "start": 203026470,
          "end": 203078740,
          "strand": "+",
          "slug": "ppfia4"
        },
        {
          "symbol": "MYOG",
          "ensemblId": "ENSG00000122180",
          "biotype": "protein_coding",
          "start": 203083129,
          "end": 203086050,
          "strand": "-",
          "slug": "myog"
        },
        {
          "symbol": "ADORA1",
          "ensemblId": "ENSG00000163485",
          "biotype": "protein_coding",
          "start": 203090654,
          "end": 203167407,
          "strand": "+",
          "slug": "adora1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myasthenic-syndrome",
        "name": "Įgimtas miasteninis sindromas",
        "diseases": [
          {
            "mondoId": "MONDO:0018940",
            "name": "Įgimtas miasteninis sindromas (visi tipai)",
            "genes": 27,
            "inheritance": null,
            "description": "Bendras terminas, apimantis visus įgimtus miasteninius sindromus, įskaitant dažnas CHRNE, RAPSN, DOK7 ir MUSK formas.",
            "management": "Daugelis formų gerai reaguoja į specifinius vaistus, pavyzdžiui, piridostigminą, salbutamolį ar efedriną, o tinkamas pasirinkimas priklauso nuo konkretaus geno.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/congenital-myasthenic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "ankle-flexion-contracture",
        "name": "Ankle flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankle-flexion-contracture"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "compound-muscle-action-potential-amplitude-facilitation",
        "name": "Compound muscle action potential amplitude facilitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/compound-muscle-action-potential-amplitude-facilitation"
      },
      {
        "slug": "decreased-compound-muscle-action-potential-amplitude",
        "name": "Decreased compound muscle action potential amplitude",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-compound-muscle-action-potential-amplitude"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "abnormally-high-pitched-voice",
        "name": "High pitched voice",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "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": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "limited-extraocular-movements",
        "name": "Limited extraocular movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-extraocular-movements"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mitral-stenosis",
        "name": "Mitral stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-stenosis"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "subvalvular-aortic-stenosis",
        "name": "Narrowing of blood vessel below aortic heart valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subvalvular-aortic-stenosis"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "reduced-forced-vital-capacity",
        "name": "Reduced forced vital capacity",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "slow-saccadic-eye-movements",
        "name": "Slow eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "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": "tongue-fasciculations",
        "name": "Tongue twitching",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tongue-fasciculations"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "proximal-amyotrophy",
        "name": "Wasting of muscles near the body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proximal-amyotrophy"
      },
      {
        "slug": "weak-cry",
        "name": "Weak cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weak-cry"
      },
      {
        "slug": "weak-voice",
        "name": "Weak voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weak-voice"
      },
      {
        "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": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "agrn",
        "symbol": "AGRN",
        "name": "agrin",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/agrn"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alg2"
      },
      {
        "slug": "chat",
        "symbol": "CHAT",
        "name": "choline O-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chat"
      },
      {
        "slug": "chrna1",
        "symbol": "CHRNA1",
        "name": "cholinergic receptor nicotinic alpha 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chrna1"
      },
      {
        "slug": "chrnb1",
        "symbol": "CHRNB1",
        "name": "cholinergic receptor nicotinic beta 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chrnb1"
      },
      {
        "slug": "chrnd",
        "symbol": "CHRND",
        "name": "cholinergic receptor nicotinic delta subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chrnd"
      },
      {
        "slug": "chrne",
        "symbol": "CHRNE",
        "name": "cholinergic receptor nicotinic epsilon subunit",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/chrne"
      },
      {
        "slug": "col13a1",
        "symbol": "COL13A1",
        "name": "collagen type XIII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/col13a1"
      },
      {
        "slug": "colq",
        "symbol": "COLQ",
        "name": "collagen like tail subunit of asymmetric acetylcholinesterase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/colq"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "name": "docking protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dok7"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dpagt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}