{
  "url": "https://dantelabs.com/sv/genes/amt",
  "gene": {
    "slug": "amt",
    "symbol": "AMT",
    "name": "aminomethyltransferase",
    "hgnc": "HGNC:473",
    "summary": null,
    "location": "3p21.31",
    "locusType": "gene with protein product",
    "aliases": [
      "GCST",
      "NKH"
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    "previousSymbols": [],
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      "238310"
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    "uniprot": [
      "P48728"
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      "release": "v1.5",
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      "ensemblTranscript": "ENST00000273588.9",
      "refseqTranscript": "NM_000481.4",
      "ensemblProtein": "ENSP00000273588.3",
      "refseqProtein": "NP_000472.2",
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    },
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    },
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        {
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          "symbol": "NDUFAF3",
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        {
          "symbol": "IMPDH2",
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          "slug": "impdh2"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000290315",
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        {
          "symbol": "QRICH1",
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        {
          "symbol": "QARS1",
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        {
          "symbol": "USP19",
          "ensemblId": "ENSG00000172046",
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        {
          "symbol": "LAMB2",
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        {
          "symbol": "CCDC71",
          "ensemblId": "ENSG00000177352",
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        {
          "symbol": "KLHDC8B",
          "ensemblId": "ENSG00000185909",
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        {
          "symbol": "CIMIP7",
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        {
          "symbol": "IHO1",
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          "biotype": "protein_coding",
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        {
          "symbol": "C3orf62",
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        {
          "symbol": "USP4",
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          "slug": "usp4"
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        {
          "symbol": "GPX1",
          "ensemblId": "ENSG00000233276",
          "biotype": "protein_coding",
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        {
          "symbol": "",
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        },
        {
          "symbol": "RHOA",
          "ensemblId": "ENSG00000067560",
          "biotype": "protein_coding",
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          "slug": "rhoa"
        },
        {
          "symbol": "TCTA",
          "ensemblId": "ENSG00000145022",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000283189",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "NICN1",
          "ensemblId": "ENSG00000145029",
          "biotype": "protein_coding",
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          "slug": "nicn1"
        },
        {
          "symbol": "DAG1",
          "ensemblId": "ENSG00000173402",
          "biotype": "protein_coding",
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          "end": 49535624,
          "strand": "+",
          "slug": "dag1"
        },
        {
          "symbol": "BSN",
          "ensemblId": "ENSG00000164061",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "bsn"
        },
        {
          "symbol": "APEH",
          "ensemblId": "ENSG00000164062",
          "biotype": "protein_coding",
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          "end": 49683973,
          "strand": "+",
          "slug": "apeh"
        },
        {
          "symbol": "MST1",
          "ensemblId": "ENSG00000173531",
          "biotype": "protein_coding",
          "start": 49683922,
          "end": 49689501,
          "strand": "-",
          "slug": "mst1"
        },
        {
          "symbol": "RNF123",
          "ensemblId": "ENSG00000164068",
          "biotype": "protein_coding",
          "start": 49688740,
          "end": 49723389,
          "strand": "+",
          "slug": "rnf123"
        },
        {
          "symbol": "AMIGO3",
          "ensemblId": "ENSG00000176020",
          "biotype": "protein_coding",
          "start": 49716829,
          "end": 49719684,
          "strand": "-",
          "slug": "amigo3"
        },
        {
          "symbol": "GMPPB",
          "ensemblId": "ENSG00000173540",
          "biotype": "protein_coding",
          "start": 49716844,
          "end": 49723988,
          "strand": "-",
          "slug": "gmppb"
        },
        {
          "symbol": "IP6K1",
          "ensemblId": "ENSG00000176095",
          "biotype": "protein_coding",
          "start": 49724294,
          "end": 49786557,
          "strand": "-",
          "slug": "ip6k1"
        },
        {
          "symbol": "CDHR4",
          "ensemblId": "ENSG00000187492",
          "biotype": "protein_coding",
          "start": 49790732,
          "end": 49799879,
          "strand": "-",
          "slug": "cdhr4"
        },
        {
          "symbol": "INKA1",
          "ensemblId": "ENSG00000185614",
          "biotype": "protein_coding",
          "start": 49803228,
          "end": 49805237,
          "strand": "+",
          "slug": "inka1"
        },
        {
          "symbol": "UBA7",
          "ensemblId": "ENSG00000182179",
          "biotype": "protein_coding",
          "start": 49805205,
          "end": 49814151,
          "strand": "-",
          "slug": "uba7"
        },
        {
          "symbol": "TRAIP",
          "ensemblId": "ENSG00000183763",
          "biotype": "protein_coding",
          "start": 49828595,
          "end": 49856597,
          "strand": "-",
          "slug": "traip"
        },
        {
          "symbol": "CAMKV",
          "ensemblId": "ENSG00000164076",
          "biotype": "protein_coding",
          "start": 49857214,
          "end": 49870064,
          "strand": "-",
          "slug": "camkv"
        },
        {
          "symbol": "MST1R",
          "ensemblId": "ENSG00000164078",
          "biotype": "protein_coding",
          "start": 49886902,
          "end": 49906130,
          "strand": "-",
          "slug": "mst1r"
        },
        {
          "symbol": "MON1A",
          "ensemblId": "ENSG00000164077",
          "biotype": "protein_coding",
          "start": 49907160,
          "end": 49930173,
          "strand": "-",
          "slug": "mon1a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycine-and-serine-metabolism-disorders",
        "name": "Ärftliga störningar i glycin- och serinmetabolismen",
        "diseases": [
          {
            "mondoId": "MONDO:0011612",
            "name": "Glycinencefalopati (icke-ketotisk hyperglycinemi)",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Orsakas av varianter i GLDC, AMT eller GCSH (och, i en atypisk form, SLC6A9), som ger höga glycinnivåer i hjärnan och kan leda till krampanfall, låg muskelspänning och utvecklingsproblem.",
            "management": "Kunskap om detta gör det möjligt att behandla med natriumbensoat och dextrometorfan, vilket kan minska krampanfall vid vissa former.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 7
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/glycine-and-serine-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "eeg-with-burst-suppression",
        "name": "EEG with burst suppression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-with-burst-suppression"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "increased-csf-glycine-concentration",
        "name": "Increased CSF glycine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-glycine-concentration"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "mild-global-developmental-delay",
        "name": "Mild global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-global-developmental-delay"
      },
      {
        "slug": "nonketotic-hyperglycinemia",
        "name": "Nonketotic hyperglycinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nonketotic-hyperglycinemia"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      }
    ],
    "related": [
      {
        "slug": "gcsh",
        "symbol": "GCSH",
        "name": "glycine cleavage system protein H",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gcsh"
      },
      {
        "slug": "gldc",
        "symbol": "GLDC",
        "name": "glycine decarboxylase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gldc"
      },
      {
        "slug": "slc6a9",
        "symbol": "SLC6A9",
        "name": "solute carrier family 6 member 9",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc6a9"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}