{
  "url": "https://dantelabs.com/fi/genes/gcsh",
  "gene": {
    "slug": "gcsh",
    "symbol": "GCSH",
    "name": "glycine cleavage system protein H",
    "hgnc": "HGNC:4208",
    "summary": null,
    "location": "16q23.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000140905",
    "entrezId": 2653,
    "omim": [
      "238330"
    ],
    "uniprot": [
      "P23434"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 81081945,
      "end": 81096395,
      "strand": "-",
      "ensemblTranscript": "ENST00000315467.9",
      "refseqTranscript": "NM_004483.5",
      "ensemblProtein": "ENSP00000319531.3",
      "refseqProtein": "NP_004474.2",
      "exons": [
        {
          "start": 81081945,
          "end": 81082963
        },
        {
          "start": 81084463,
          "end": 81084594
        },
        {
          "start": 81087601,
          "end": 81087664
        },
        {
          "start": 81090601,
          "end": 81090680
        },
        {
          "start": 81096131,
          "end": 81096395
        }
      ],
      "cds": {
        "start": 81082866,
        "end": 81096278
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 81115566,
      "end": 81130008,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 80589170,
      "end": 81589169,
      "genes": [
        {
          "symbol": "CDYL2",
          "ensemblId": "ENSG00000166446",
          "biotype": "protein_coding",
          "start": 80597907,
          "end": 80804611,
          "strand": "-",
          "slug": "cdyl2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286221",
          "biotype": "protein_coding",
          "start": 80828736,
          "end": 81006894,
          "strand": "-"
        },
        {
          "symbol": "CMC2",
          "ensemblId": "ENSG00000103121",
          "biotype": "protein_coding",
          "start": 80966448,
          "end": 81020270,
          "strand": "-",
          "slug": "cmc2"
        },
        {
          "symbol": "CENPN",
          "ensemblId": "ENSG00000166451",
          "biotype": "protein_coding",
          "start": 81006506,
          "end": 81033558,
          "strand": "+",
          "slug": "cenpn"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284512",
          "biotype": "protein_coding",
          "start": 81022316,
          "end": 81096284,
          "strand": "-"
        },
        {
          "symbol": "ATMIN",
          "ensemblId": "ENSG00000166454",
          "biotype": "protein_coding",
          "start": 81035809,
          "end": 81047350,
          "strand": "+",
          "slug": "atmin"
        },
        {
          "symbol": "C16orf46",
          "ensemblId": "ENSG00000166455",
          "biotype": "protein_coding",
          "start": 81053195,
          "end": 81077267,
          "strand": "-",
          "slug": "c16orf46"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260643",
          "biotype": "protein_coding",
          "start": 81053587,
          "end": 81096296,
          "strand": "-"
        },
        {
          "symbol": "PKD1L2",
          "ensemblId": "ENSG00000166473",
          "biotype": "protein_coding",
          "start": 81100875,
          "end": 81220370,
          "strand": "-",
          "slug": "pkd1l2"
        },
        {
          "symbol": "BCO1",
          "ensemblId": "ENSG00000135697",
          "biotype": "protein_coding",
          "start": 81238576,
          "end": 81291226,
          "strand": "+",
          "slug": "bco1"
        },
        {
          "symbol": "GAN",
          "ensemblId": "ENSG00000261609",
          "biotype": "protein_coding",
          "start": 81314932,
          "end": 81390884,
          "strand": "+",
          "slug": "gan"
        },
        {
          "symbol": "CMIP",
          "ensemblId": "ENSG00000153815",
          "biotype": "protein_coding",
          "start": 81444800,
          "end": 81711762,
          "strand": "+",
          "slug": "cmip"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "glycine-and-serine-metabolism-disorders",
        "name": "Glysiinin ja seriinin aineenvaihdunnan häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0011612",
            "name": "Glysiinienkefalopatia (ei-ketoottinen hyperglysinemia)",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Aiheutuu GLDC-, AMT- tai GCSH-geenien varianteista (ja atyyppisessä muodossa myös SLC6A9-geenin variantista). Ne aiheuttavat korkean glysiinipitoisuuden aivoissa, mikä voi johtaa kohtauksiin, heikentyneeseen lihasjänteyteen ja kehityksellisiin ongelmiin.",
            "management": "Tieto mahdollistaa natriumbentsoaatilla ja dekstrometorfaanilla tehtävän hoidon, joka voi vähentää kohtauksia joissakin muodoissa.",
            "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/fi/conditions/glycine-and-serine-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-diffusion-weighted-cerebral-mri-morphology",
        "name": "Abnormal diffusion weighted cerebral MRI morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-diffusion-weighted-cerebral-mri-morphology"
      },
      {
        "slug": "ankle-clonus",
        "name": "Abnormal rhythmic movements of ankle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ankle-clonus"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "cyanosis",
        "name": "Blue discoloration of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cyanosis"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "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": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "elevated-brain-glycine-level-by-mrs",
        "name": "Elevated brain glycine level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-brain-glycine-level-by-mrs"
      },
      {
        "slug": "elevated-brain-lactate-level-by-mrs",
        "name": "Elevated brain lactate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "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": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "recurrent-singultus",
        "name": "Hiccup",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-singultus"
      },
      {
        "slug": "hypernatremia",
        "name": "High blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypernatremia"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "impulsivity",
        "name": "Impulsivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impulsivity"
      },
      {
        "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": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "multifocal-seizures",
        "name": "Multifocal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multifocal-seizures"
      },
      {
        "slug": "myoclonic-seizure",
        "name": "Myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "open-mouth",
        "name": "Open mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/open-mouth"
      },
      {
        "slug": "partial-atrioventricular-canal-defect",
        "name": "Partial atrioventricular canal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/partial-atrioventricular-canal-defect"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "reduced-brain-n-acetyl-aspartate-level-by-mrs",
        "name": "Reduced brain N-acetyl aspartate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-brain-n-acetyl-aspartate-level-by-mrs"
      },
      {
        "slug": "respiratory-failure-requiring-assisted-ventilation",
        "name": "Respiratory failure requiring assisted ventilation",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [
      {
        "slug": "amt",
        "symbol": "AMT",
        "name": "aminomethyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/amt"
      },
      {
        "slug": "gldc",
        "symbol": "GLDC",
        "name": "glycine decarboxylase",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/gldc"
      },
      {
        "slug": "slc6a9",
        "symbol": "SLC6A9",
        "name": "solute carrier family 6 member 9",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/slc6a9"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}