{
  "url": "https://dantelabs.com/fi/genes/slc6a8",
  "gene": {
    "slug": "slc6a8",
    "symbol": "SLC6A8",
    "name": "solute carrier family 6 member 8",
    "hgnc": "HGNC:11055",
    "summary": null,
    "location": "Xq28",
    "locusType": "gene with protein product",
    "aliases": [
      "CRTR",
      "CT1",
      "CRT",
      "CRT-1",
      "CRT1"
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    "previousSymbols": [],
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    "entrezId": 6535,
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      "300036"
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      "P48029"
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      "refseqProtein": "NP_005620.1",
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      "end": 152962048,
      "strand": "+"
    },
    "neighbourhood": {
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      "end": 154192256,
      "genes": [
        {
          "symbol": "PWWP4",
          "ensemblId": "ENSG00000278803",
          "biotype": "protein_coding",
          "start": 153266152,
          "end": 153279145,
          "strand": "+",
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        },
        {
          "symbol": "PNMA6F",
          "ensemblId": "ENSG00000225110",
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          "strand": "-",
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        {
          "symbol": "ZNF275",
          "ensemblId": "ENSG00000063587",
          "biotype": "protein_coding",
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        {
          "symbol": "PNMA6E",
          "ensemblId": "ENSG00000214897",
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          "strand": "-",
          "slug": "pnma6e"
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          "ensemblId": "ENSG00000189420",
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        {
          "symbol": "TREX2",
          "ensemblId": "ENSG00000183479",
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          "strand": "-",
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        {
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          "slug": "haus7"
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        {
          "symbol": "BGN",
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          "slug": "bgn"
        },
        {
          "symbol": "ATP2B3",
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        {
          "symbol": "CCNQ",
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          "biotype": "protein_coding",
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          "strand": "-",
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        {
          "symbol": "DUSP9",
          "ensemblId": "ENSG00000130829",
          "biotype": "protein_coding",
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          "slug": "dusp9"
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        {
          "symbol": "PNCK",
          "ensemblId": "ENSG00000130822",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "pnck"
        },
        {
          "symbol": "BCAP31",
          "ensemblId": "ENSG00000185825",
          "biotype": "protein_coding",
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          "end": 153725957,
          "strand": "-",
          "slug": "bcap31"
        },
        {
          "symbol": "ABCD1",
          "ensemblId": "ENSG00000101986",
          "biotype": "protein_coding",
          "start": 153724495,
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          "strand": "+",
          "slug": "abcd1"
        },
        {
          "symbol": "PLXNB3",
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          "biotype": "protein_coding",
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        {
          "symbol": "SRPK3",
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          "biotype": "protein_coding",
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        {
          "symbol": "IDH3G",
          "ensemblId": "ENSG00000067829",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "idh3g"
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        {
          "symbol": "SSR4",
          "ensemblId": "ENSG00000180879",
          "biotype": "protein_coding",
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          "end": 153798510,
          "strand": "+",
          "slug": "ssr4"
        },
        {
          "symbol": "PDZD4",
          "ensemblId": "ENSG00000067840",
          "biotype": "protein_coding",
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          "end": 153830935,
          "strand": "-",
          "slug": "pdzd4"
        },
        {
          "symbol": "L1CAM",
          "ensemblId": "ENSG00000198910",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "l1cam"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284987",
          "biotype": "protein_coding",
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          "strand": "-"
        },
        {
          "symbol": "AVPR2",
          "ensemblId": "ENSG00000126895",
          "biotype": "protein_coding",
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          "end": 153907169,
          "strand": "+",
          "slug": "avpr2"
        },
        {
          "symbol": "ARHGAP4",
          "ensemblId": "ENSG00000089820",
          "biotype": "protein_coding",
          "start": 153907367,
          "end": 153934999,
          "strand": "-",
          "slug": "arhgap4"
        },
        {
          "symbol": "NAA10",
          "ensemblId": "ENSG00000102030",
          "biotype": "protein_coding",
          "start": 153928799,
          "end": 153935083,
          "strand": "-",
          "slug": "naa10"
        },
        {
          "symbol": "RENBP",
          "ensemblId": "ENSG00000102032",
          "biotype": "protein_coding",
          "start": 153935269,
          "end": 153944688,
          "strand": "-",
          "slug": "renbp"
        },
        {
          "symbol": "HCFC1",
          "ensemblId": "ENSG00000172534",
          "biotype": "protein_coding",
          "start": 153946434,
          "end": 153972427,
          "strand": "-",
          "slug": "hcfc1"
        },
        {
          "symbol": "TMEM187",
          "ensemblId": "ENSG00000177854",
          "biotype": "protein_coding",
          "start": 153972290,
          "end": 153983194,
          "strand": "+",
          "slug": "tmem187"
        },
        {
          "symbol": "IRAK1",
          "ensemblId": "ENSG00000184216",
          "biotype": "protein_coding",
          "start": 154010501,
          "end": 154020650,
          "strand": "-",
          "slug": "irak1"
        },
        {
          "symbol": "MECP2",
          "ensemblId": "ENSG00000169057",
          "biotype": "protein_coding",
          "start": 154021573,
          "end": 154137103,
          "strand": "-",
          "slug": "mecp2"
        },
        {
          "symbol": "OPN1LW",
          "ensemblId": "ENSG00000102076",
          "biotype": "protein_coding",
          "start": 154144243,
          "end": 154159032,
          "strand": "+",
          "slug": "opn1lw"
        },
        {
          "symbol": "OPN1MW",
          "ensemblId": "ENSG00000268221",
          "biotype": "protein_coding",
          "start": 154182596,
          "end": 154196861,
          "strand": "+",
          "slug": "opn1mw"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cerebral-creatine-deficiency-syndromes",
        "name": "Aivojen kreatiinivajausoireyhtymät",
        "diseases": [
          {
            "mondoId": "MONDO:0000456",
            "name": "Aivojen kreatiinivajausoireyhtymä",
            "genes": 3,
            "inheritance": null,
            "description": "Sisältää GAMT- ja AGAT-puutoksen (autosomaalinen resessiivinen) sekä kreatiinin kuljetinproteiinin puutoksen (SLC6A8, X-kromosomiin sidottu), jotka voivat aiheuttaa älyllisen kehitysvammaisuuden, puheen viivästymisen, kohtauksia ja käyttäytymisongelmia.",
            "management": "Tiedon avulla voidaan aloittaa kreatiinilisä sekä GAMT-puutoksessa ornitiinilisä ja ruokavalion muutokset. Kun hoito aloitetaan varhain, se voi parantaa oireita tai ehkäistä niitä muodostumisen häiriöissä.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "x-linked-recessive"
              ],
              "actionability": 8
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/cerebral-creatine-deficiency-syndromes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-circulating-creatine-concentration",
        "name": "Abnormality of creatine metabolism",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-concentration"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "delayed-myelination",
        "name": "Delayed myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-myelination"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-creatine-concentration",
        "name": "Elevated circulating creatine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-concentration"
      },
      {
        "slug": "elevated-urinary-creatine-creatinine-ratio",
        "name": "Elevated urinary creatine/creatinine ratio",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-creatine-creatinine-ratio"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "mask-like-facies",
        "name": "Expressionless face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mask-like-facies"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "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": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "ileus",
        "name": "Ileus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ileus"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "redundant-skin",
        "name": "Loose redundant skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/redundant-skin"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/axial-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": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "myopathic-facies",
        "name": "Myopathic facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/myopathic-facies"
      },
      {
        "slug": "narrow-face",
        "name": "Narrow face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-face"
      },
      {
        "slug": "open-mouth",
        "name": "Open mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/open-mouth"
      },
      {
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      {
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        "name": "Poor hand-eye coordination",
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      {
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      },
      {
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        "name": "Prolonged QT interval",
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      {
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      {
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        "name": "Repetitive movements",
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        "url": "https://dantelabs.com/traits/motor-stereotypy"
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      {
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        "systems": [
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        "url": "https://dantelabs.com/traits/self-mutilation"
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      {
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      {
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      {
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      {
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      {
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      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
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      {
        "slug": "cachexia",
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        "url": "https://dantelabs.com/traits/cachexia"
      },
      {
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        "name": "Y476X",
        "commonName": null,
        "symbol": "SLC6A8",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1428C>G",
        "position": 153694379,
        "grch37Position": 152959834,
        "part": {
          "kind": "exon",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/slc6a8/variants/y476x"
      }
    ]
  }
}