{
  "url": "https://dantelabs.com/no/genes/slc6a9",
  "gene": {
    "slug": "slc6a9",
    "symbol": "SLC6A9",
    "name": "solute carrier family 6 member 9",
    "hgnc": "HGNC:11056",
    "summary": null,
    "location": "1p34.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GLYT1",
      "GlyT-1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000196517",
    "entrezId": 6536,
    "omim": [
      "601019"
    ],
    "uniprot": [
      "P48067"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 43996483,
      "end": 44031462,
      "strand": "-",
      "ensemblTranscript": "ENST00000372310.8",
      "refseqTranscript": "NM_001024845.3",
      "ensemblProtein": "ENSP00000361384.4",
      "refseqProtein": "NP_001020016.1",
      "exons": [
        {
          "start": 43996483,
          "end": 43997739
        },
        {
          "start": 43997855,
          "end": 43998025
        },
        {
          "start": 44000767,
          "end": 44000867
        },
        {
          "start": 44000956,
          "end": 44001055
        },
        {
          "start": 44001164,
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        },
        {
          "start": 44001390,
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        },
        {
          "start": 44002313,
          "end": 44002416
        },
        {
          "start": 44002512,
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        },
        {
          "start": 44002853,
          "end": 44002985
        },
        {
          "start": 44008353,
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        },
        {
          "start": 44009965,
          "end": 44010096
        },
        {
          "start": 44010726,
          "end": 44010882
        },
        {
          "start": 44024248,
          "end": 44024362
        },
        {
          "start": 44031306,
          "end": 44031462
        }
      ],
      "cds": {
        "start": 43997545,
        "end": 44024277
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 44457172,
      "end": 44497139,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43513973,
      "end": 44513972,
      "genes": [
        {
          "symbol": "PTPRF",
          "ensemblId": "ENSG00000142949",
          "biotype": "protein_coding",
          "start": 43525086,
          "end": 43626579,
          "strand": "+",
          "slug": "ptprf"
        },
        {
          "symbol": "KDM4A",
          "ensemblId": "ENSG00000066135",
          "biotype": "protein_coding",
          "start": 43649256,
          "end": 43705518,
          "strand": "+",
          "slug": "kdm4a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284989",
          "biotype": "protein_coding",
          "start": 43650149,
          "end": 43931014,
          "strand": "+"
        },
        {
          "symbol": "ST3GAL3",
          "ensemblId": "ENSG00000126091",
          "biotype": "protein_coding",
          "start": 43705824,
          "end": 43931167,
          "strand": "+",
          "slug": "st3gal3"
        },
        {
          "symbol": "ARTN",
          "ensemblId": "ENSG00000117407",
          "biotype": "protein_coding",
          "start": 43933272,
          "end": 43937244,
          "strand": "+",
          "slug": "artn"
        },
        {
          "symbol": "IPO13",
          "ensemblId": "ENSG00000117408",
          "biotype": "protein_coding",
          "start": 43946672,
          "end": 43968024,
          "strand": "+",
          "slug": "ipo13"
        },
        {
          "symbol": "DPH2",
          "ensemblId": "ENSG00000132768",
          "biotype": "protein_coding",
          "start": 43969975,
          "end": 43973373,
          "strand": "+",
          "slug": "dph2"
        },
        {
          "symbol": "ATP6V0B",
          "ensemblId": "ENSG00000117410",
          "biotype": "protein_coding",
          "start": 43974487,
          "end": 43978299,
          "strand": "+",
          "slug": "atp6v0b"
        },
        {
          "symbol": "B4GALT2",
          "ensemblId": "ENSG00000117411",
          "biotype": "protein_coding",
          "start": 43978943,
          "end": 43991173,
          "strand": "+",
          "slug": "b4galt2"
        },
        {
          "symbol": "CCDC24",
          "ensemblId": "ENSG00000159214",
          "biotype": "protein_coding",
          "start": 43991352,
          "end": 43996529,
          "strand": "+",
          "slug": "ccdc24"
        },
        {
          "symbol": "KLF17",
          "ensemblId": "ENSG00000171872",
          "biotype": "protein_coding",
          "start": 44118821,
          "end": 44135387,
          "strand": "+",
          "slug": "klf17"
        },
        {
          "symbol": "KLF18",
          "ensemblId": "ENSG00000283039",
          "biotype": "protein_coding",
          "start": 44137821,
          "end": 44141631,
          "strand": "-",
          "slug": "klf18"
        },
        {
          "symbol": "DMAP1",
          "ensemblId": "ENSG00000178028",
          "biotype": "protein_coding",
          "start": 44213427,
          "end": 44230038,
          "strand": "+",
          "slug": "dmap1"
        },
        {
          "symbol": "ERI3",
          "ensemblId": "ENSG00000117419",
          "biotype": "protein_coding",
          "start": 44221070,
          "end": 44355267,
          "strand": "-",
          "slug": "eri3"
        },
        {
          "symbol": "RNF220",
          "ensemblId": "ENSG00000187147",
          "biotype": "protein_coding",
          "start": 44405142,
          "end": 44651724,
          "strand": "+",
          "slug": "rnf220"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycine-and-serine-metabolism-disorders",
        "name": "Forstyrrelser i glysin- og serinmetabolismen",
        "diseases": [
          {
            "mondoId": "MONDO:0011612",
            "name": "Glysinencefalopati (ikke-ketotisk hyperglycinemi)",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaket av varianter i GLDC, AMT eller GCSH (og, i en atypisk form, SLC6A9), som fører til høye nivåer av glysin i hjernen og kan føre til anfall, lav muskelspenning og utviklingsforsinkelser.",
            "management": "Kunnskap om dette gjør det mulig å behandle med natriumbenzoat og dekstrometorfan, som kan redusere anfall hos noen former.",
            "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/no/conditions/glycine-and-serine-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "genu-recurvatum",
        "name": "Back knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/genu-recurvatum"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "exaggerated-startle-response",
        "name": "Exaggerated startle response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/exaggerated-startle-response"
      },
      {
        "slug": "fetal-distress",
        "name": "Fetal distress",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/fetal-distress"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hand-clenching",
        "name": "Hand clenching",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/hand-clenching"
      },
      {
        "slug": "hip-contracture",
        "name": "Hip contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hip-contracture"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "long-eyelashes",
        "name": "Long eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/long-eyelashes"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "myopathic-facies",
        "name": "Myopathic facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/myopathic-facies"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "overlapping-toe",
        "name": "Overlapping toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/overlapping-toe"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "trigonocephaly",
        "name": "Triangular head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/trigonocephaly"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "amt",
        "symbol": "AMT",
        "name": "aminomethyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/amt"
      },
      {
        "slug": "gcsh",
        "symbol": "GCSH",
        "name": "glycine cleavage system protein H",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gcsh"
      },
      {
        "slug": "gldc",
        "symbol": "GLDC",
        "name": "glycine decarboxylase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/gldc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}