{
  "url": "https://dantelabs.com/es/genes/slc6a5",
  "gene": {
    "slug": "slc6a5",
    "symbol": "SLC6A5",
    "name": "solute carrier family 6 member 5",
    "hgnc": "HGNC:11051",
    "summary": null,
    "location": "11p15.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GLYT2",
      "GlyT-2"
    ],
    "previousSymbols": [
      "NET1"
    ],
    "ensemblId": "ENSG00000165970",
    "entrezId": 9152,
    "omim": [
      "604159"
    ],
    "uniprot": [
      "Q9Y345"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 20599608,
      "end": 20659285,
      "strand": "+",
      "ensemblTranscript": "ENST00000525748.6",
      "refseqTranscript": "NM_004211.5",
      "ensemblProtein": "ENSP00000434364.2",
      "refseqProtein": "NP_004202.4",
      "exons": [
        {
          "start": 20599608,
          "end": 20599675
        },
        {
          "start": 20601129,
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        },
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        },
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        },
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          "end": 20614820
        },
        {
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          "end": 20617884
        },
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          "end": 20626842
        },
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          "end": 20628083
        },
        {
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          "end": 20630815
        },
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          "end": 20636419
        },
        {
          "start": 20637172,
          "end": 20637303
        },
        {
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          "end": 20638558
        },
        {
          "start": 20646834,
          "end": 20646934
        },
        {
          "start": 20652289,
          "end": 20652456
        },
        {
          "start": 20654713,
          "end": 20659285
        }
      ],
      "cds": {
        "start": 20599673,
        "end": 20654868
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 20620946,
      "end": 20680831,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 20129447,
      "end": 21129446,
      "genes": [
        {
          "symbol": "DBX1",
          "ensemblId": "ENSG00000109851",
          "biotype": "protein_coding",
          "start": 20155025,
          "end": 20160477,
          "strand": "-",
          "slug": "dbx1"
        },
        {
          "symbol": "HTATIP2",
          "ensemblId": "ENSG00000109854",
          "biotype": "protein_coding",
          "start": 20355910,
          "end": 20384272,
          "strand": "+",
          "slug": "htatip2"
        },
        {
          "symbol": "PRMT3",
          "ensemblId": "ENSG00000185238",
          "biotype": "protein_coding",
          "start": 20387525,
          "end": 20510856,
          "strand": "+",
          "slug": "prmt3"
        },
        {
          "symbol": "NELL1",
          "ensemblId": "ENSG00000165973",
          "biotype": "protein_coding",
          "start": 20669132,
          "end": 21577711,
          "strand": "+",
          "slug": "nell1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hyperekplexia-3-slc6a5",
        "name": "Hiperekplexia 3 (SLC6A5)",
        "diseases": [
          {
            "mondoId": "MONDO:0013827",
            "name": "Hiperekplexia 3 (SLC6A5)",
            "genes": 1,
            "inheritance": null,
            "description": "Causada por alteraciones en SLC6A5, que codifica un transportador de glicina. Las cohortes publicadas muestran una herencia mayoritariamente recesiva, aunque se dan algunos casos dominantes.",
            "management": "Está disponible el asesoramiento genético, con pruebas a portadores o a los progenitores según el tipo de herencia. Los pacientes deben ser evaluados por posibles problemas del desarrollo y neuropsiquiátricos, y se recomienda la realización de pruebas genéticas.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/hyperekplexia-3-slc6a5"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "respiratory-arrest",
        "name": "Breathing cessation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-arrest"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "exaggerated-startle-response",
        "name": "Exaggerated startle response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exaggerated-startle-response"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hernia",
        "name": "Hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hernia"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "esophagitis",
        "name": "Inflammation of the esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/esophagitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "meconium-stained-amniotic-fluid",
        "name": "Meconium stained amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/meconium-stained-amniotic-fluid"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "hiatus-hernia",
        "name": "Stomach hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hiatus-hernia"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "ventouse-delivery",
        "name": "Vacuum extraction",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventouse-delivery"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}