{
  "url": "https://dantelabs.com/genes/gldc",
  "gene": {
    "slug": "gldc",
    "symbol": "GLDC",
    "name": "glycine decarboxylase",
    "hgnc": "HGNC:4313",
    "summary": null,
    "location": "9p24.1",
    "locusType": "gene with protein product",
    "aliases": [
      "GCSP",
      "NKH"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000178445",
    "entrezId": 2731,
    "omim": [
      "238300"
    ],
    "uniprot": [
      "P23378"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 6532467,
      "end": 6645729,
      "strand": "-",
      "ensemblTranscript": "ENST00000321612.8",
      "refseqTranscript": "NM_000170.3",
      "ensemblProtein": "ENSP00000370737.4",
      "refseqProtein": "NP_000161.2",
      "exons": [
        {
          "start": 6532467,
          "end": 6533160
        },
        {
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        },
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        },
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        },
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        },
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        },
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          "end": 6604784
        },
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        },
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          "end": 6606669
        },
        {
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        },
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        },
        {
          "start": 6644614,
          "end": 6644692
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        {
          "start": 6645245,
          "end": 6645729
        }
      ],
      "cds": {
        "start": 6533017,
        "end": 6645499
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 6532464,
      "end": 6645650,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 6089098,
      "end": 7089097,
      "genes": [
        {
          "symbol": "IL33",
          "ensemblId": "ENSG00000137033",
          "biotype": "protein_coding",
          "start": 6215136,
          "end": 6281596,
          "strand": "+",
          "slug": "il33"
        },
        {
          "symbol": "TPD52L3",
          "ensemblId": "ENSG00000170777",
          "biotype": "protein_coding",
          "start": 6328375,
          "end": 6331891,
          "strand": "+",
          "slug": "tpd52l3"
        },
        {
          "symbol": "UHRF2",
          "ensemblId": "ENSG00000147854",
          "biotype": "protein_coding",
          "start": 6413151,
          "end": 6507056,
          "strand": "+",
          "slug": "uhrf2"
        },
        {
          "symbol": "KDM4C",
          "ensemblId": "ENSG00000107077",
          "biotype": "protein_coding",
          "start": 6720863,
          "end": 7175648,
          "strand": "+",
          "slug": "kdm4c"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycine-and-serine-metabolism-disorders",
        "name": "Disorders of Glycine & Serine Metabolism",
        "diseases": [
          {
            "mondoId": "MONDO:0011612",
            "name": "Glycine Encephalopathy (Non-Ketotic Hyperglycinemia)",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in GLDC, AMT or GCSH (and, in an atypical form, SLC6A9), which cause high glycine in the brain and can lead to seizures, low muscle tone and developmental problems.",
            "management": "Knowing allows treatment with sodium benzoate and dextromethorphan, which can reduce seizures in some forms.",
            "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/conditions/glycine-and-serine-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "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": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "recurrent-singultus",
        "name": "Hiccup",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/recurrent-singultus"
      },
      {
        "slug": "hyperglycinuria",
        "name": "High urine glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinuria"
      },
      {
        "slug": "impulsivity",
        "name": "Impulsivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "restlessness",
        "name": "Restlessness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/restlessness"
      }
    ],
    "related": [
      {
        "slug": "amt",
        "symbol": "AMT",
        "name": "aminomethyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/amt"
      },
      {
        "slug": "gcsh",
        "symbol": "GCSH",
        "name": "glycine cleavage system protein H",
        "shared": 1,
        "url": "https://dantelabs.com/genes/gcsh"
      },
      {
        "slug": "slc6a9",
        "symbol": "SLC6A9",
        "name": "solute carrier family 6 member 9",
        "shared": 1,
        "url": "https://dantelabs.com/genes/slc6a9"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}