{
  "url": "https://dantelabs.com/lt/genes/gatm",
  "gene": {
    "slug": "gatm",
    "symbol": "GATM",
    "name": "glycine amidinotransferase",
    "hgnc": "HGNC:4175",
    "summary": null,
    "location": "15q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "AGAT"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000171766",
    "entrezId": 2628,
    "omim": [
      "602360"
    ],
    "uniprot": [
      "P50440"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 45361124,
      "end": 45378544,
      "strand": "-",
      "ensemblTranscript": "ENST00000396659.8",
      "refseqTranscript": "NM_001482.3",
      "ensemblProtein": "ENSP00000379895.3",
      "refseqProtein": "NP_001473.1",
      "exons": [
        {
          "start": 45361124,
          "end": 45362221
        },
        {
          "start": 45363900,
          "end": 45364016
        },
        {
          "start": 45364797,
          "end": 45364860
        },
        {
          "start": 45366046,
          "end": 45366210
        },
        {
          "start": 45366371,
          "end": 45366508
        },
        {
          "start": 45368070,
          "end": 45368260
        },
        {
          "start": 45369326,
          "end": 45369521
        },
        {
          "start": 45376601,
          "end": 45376819
        },
        {
          "start": 45378385,
          "end": 45378544
        }
      ],
      "cds": {
        "start": 45362109,
        "end": 45378453
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 45653322,
      "end": 45694525,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 44869834,
      "end": 45869833,
      "genes": [
        {
          "symbol": "TERB2",
          "ensemblId": "ENSG00000167014",
          "biotype": "protein_coding",
          "start": 44956687,
          "end": 44979229,
          "strand": "+",
          "slug": "terb2"
        },
        {
          "symbol": "SORD",
          "ensemblId": "ENSG00000140263",
          "biotype": "protein_coding",
          "start": 45023116,
          "end": 45077185,
          "strand": "+",
          "slug": "sord"
        },
        {
          "symbol": "DUOX2",
          "ensemblId": "ENSG00000140279",
          "biotype": "protein_coding",
          "start": 45092650,
          "end": 45114185,
          "strand": "-",
          "slug": "duox2"
        },
        {
          "symbol": "DUOXA2",
          "ensemblId": "ENSG00000140274",
          "biotype": "protein_coding",
          "start": 45114325,
          "end": 45118421,
          "strand": "+",
          "slug": "duoxa2"
        },
        {
          "symbol": "DUOXA1",
          "ensemblId": "ENSG00000140254",
          "biotype": "protein_coding",
          "start": 45117364,
          "end": 45130611,
          "strand": "-",
          "slug": "duoxa1"
        },
        {
          "symbol": "DUOX1",
          "ensemblId": "ENSG00000137857",
          "biotype": "protein_coding",
          "start": 45129450,
          "end": 45165576,
          "strand": "+",
          "slug": "duox1"
        },
        {
          "symbol": "SHF",
          "ensemblId": "ENSG00000138606",
          "biotype": "protein_coding",
          "start": 45165572,
          "end": 45201175,
          "strand": "-",
          "slug": "shf"
        },
        {
          "symbol": "SLC28A2",
          "ensemblId": "ENSG00000137860",
          "biotype": "protein_coding",
          "start": 45252227,
          "end": 45277846,
          "strand": "+",
          "slug": "slc28a2"
        },
        {
          "symbol": "AFG2B",
          "ensemblId": "ENSG00000171763",
          "biotype": "protein_coding",
          "start": 45402325,
          "end": 45421415,
          "strand": "+",
          "slug": "afg2b"
        },
        {
          "symbol": "COXFA4L3",
          "ensemblId": "ENSG00000166920",
          "biotype": "protein_coding",
          "start": 45430579,
          "end": 45448761,
          "strand": "+",
          "slug": "coxfa4l3"
        },
        {
          "symbol": "SLC30A4",
          "ensemblId": "ENSG00000104154",
          "biotype": "protein_coding",
          "start": 45479606,
          "end": 45522834,
          "strand": "-",
          "slug": "slc30a4"
        },
        {
          "symbol": "BLOC1S6",
          "ensemblId": "ENSG00000104164",
          "biotype": "protein_coding",
          "start": 45587108,
          "end": 45615945,
          "strand": "+",
          "slug": "bloc1s6"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260170",
          "biotype": "protein_coding",
          "start": 45587351,
          "end": 45676314,
          "strand": "+"
        },
        {
          "symbol": "SQOR",
          "ensemblId": "ENSG00000137767",
          "biotype": "protein_coding",
          "start": 45631148,
          "end": 45691299,
          "strand": "+",
          "slug": "sqor"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cerebral-creatine-deficiency-syndromes",
        "name": "Smegenų kreatino stokos sindromai",
        "diseases": [
          {
            "mondoId": "MONDO:0000456",
            "name": "Smegenų kreatino stokos sindromas",
            "genes": 3,
            "inheritance": null,
            "description": "Apima GAMT ir AGAT stoką (autosominis recesyvinis paveldėjimas) ir kreatino transporterio stoką (SLC6A8, X chromosomos susietas paveldėjimas), kuri gali sukelti intelekto sutrikimą, kalbos vėlavimą, traukulius ir elgesio sutrikimus.",
            "management": "Žinojimas leidžia skirti kreatino papildus, o esant GAMT stokai – ornitiną ir mitybos pakeitimus; anksti pradėjus gydymą, tai gali pagerinti arba išvengti simptomų sintezės defektų atveju.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 8
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/cerebral-creatine-deficiency-syndromes"
      },
      {
        "slug": "fanconi-renotubular-syndrome-renal-glucosuria",
        "name": "Fanconi renotubulinis sindromas ir renalinė gliukozurija",
        "diseases": [
          {
            "mondoId": "MONDO:0100238",
            "name": "Paveldimas Fanconi renotubulinis sindromas",
            "genes": 3,
            "inheritance": null,
            "description": "Paveldimų proksimalinių kanalėlių ligų grupė, kurią sukelia tokie genai kaip GATM, EHHADH ir HNF4A. Šių ligų metu su šlapimu netenkama daugelio medžiagų, o tai gali paveikti kaulus ir inkstų funkciją.",
            "management": "Žinojimas leidžia stebėti inkstų funkciją ir kaulų sveikatą, prireikus papildyti netekties metu prarastus mineralus.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/fanconi-renotubular-syndrome-renal-glucosuria"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "renal-tubular-dysfunction",
        "name": "Abnormal function of filtrating structures in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-tubular-dysfunction"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "abnormal-urine-ph",
        "name": "Abnormal urine pH",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-urine-ph"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "bicarbonate-wasting-renal-tubular-acidosis",
        "name": "Bicarbonate-wasting renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bicarbonate-wasting-renal-tubular-acidosis"
      },
      {
        "slug": "bicarbonaturia",
        "name": "Bicarbonaturia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bicarbonaturia"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "decreased-circulating-guanidinoacetic-acid-concentration",
        "name": "Decreased circulating guanidinoacetic acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-guanidinoacetic-acid-concentration"
      },
      {
        "slug": "decreased-csf-creatinine-concentration",
        "name": "Decreased CSF creatinine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-csf-creatinine-concentration"
      },
      {
        "slug": "decreased-serum-creatinine",
        "name": "Decreased serum creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-creatinine"
      },
      {
        "slug": "decreased-urinary-creatine-level",
        "name": "Decreased urinary creatine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-urinary-creatine-level"
      },
      {
        "slug": "decreased-urine-creatinine-level",
        "name": "Decreased urine creatinine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-urine-creatinine-level"
      },
      {
        "slug": "decreased-urine-guanidinoacetic-acid-level",
        "name": "Decreased urine guanidinoacetic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-urine-guanidinoacetic-acid-level"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "generalized-aminoaciduria",
        "name": "Generalized aminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-aminoaciduria"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glycosuria",
        "name": "Glucose in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glycosuria"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "lacticaciduria",
        "name": "High urine lactic acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/lacticaciduria"
      },
      {
        "slug": "hyperphosphaturia",
        "name": "High urine phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperphosphaturia"
      },
      {
        "slug": "hyperuricosuria",
        "name": "High urine uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperuricosuria"
      },
      {
        "slug": "hyperchloremic-metabolic-acidosis",
        "name": "Hyperchloremic metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperchloremic-metabolic-acidosis"
      },
      {
        "slug": "hypophosphatemic-rickets",
        "name": "Hypophosphatemic rickets",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypophosphatemic-rickets"
      },
      {
        "slug": "impaired-renal-tubular-reabsorption-of-phosphate",
        "name": "Impaired renal tubular reabsorption of phosphate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-renal-tubular-reabsorption-of-phosphate"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "increased-urinary-potassium",
        "name": "Increased urinary potassium",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-urinary-potassium"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "hypophosphatemia",
        "name": "Low blood phosphate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypophosphatemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypouricemia",
        "name": "Low blood uric acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypouricemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-molecular-weight-proteinuria",
        "name": "Low-molecular-weight proteinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-molecular-weight-proteinuria"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "organic-aciduria",
        "name": "Organic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/organic-aciduria"
      },
      {
        "slug": "proximal-renal-tubular-acidosis",
        "name": "Proximal renal tubular acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proximal-renal-tubular-acidosis"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "reduced-brain-creatine-level-by-mrs",
        "name": "Reduced brain creatine level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-brain-creatine-level-by-mrs"
      },
      {
        "slug": "reduced-circulating-creatine-concentration",
        "name": "Reduced circulating creatine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-circulating-creatine-concentration"
      },
      {
        "slug": "reduced-tissue-arginine-glycine-amidinotransferase-activity",
        "name": "Reduced tissue arginine:glycine amidinotransferase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-tissue-arginine-glycine-amidinotransferase-activity"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "renal-phosphate-wasting",
        "name": "Renal phosphate wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-phosphate-wasting"
      },
      {
        "slug": "renal-sodium-wasting",
        "name": "Renal sodium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-sodium-wasting"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "simple-febrile-seizure",
        "name": "Simple febrile seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/simple-febrile-seizure"
      },
      {
        "slug": "osteomalacia",
        "name": "Softening of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteomalacia"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "ehhadh",
        "symbol": "EHHADH",
        "name": "enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ehhadh"
      },
      {
        "slug": "gamt",
        "symbol": "GAMT",
        "name": "guanidinoacetate N-methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/gamt"
      },
      {
        "slug": "hnf4a",
        "symbol": "HNF4A",
        "name": "hepatocyte nuclear factor 4 alpha",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/hnf4a"
      },
      {
        "slug": "slc6a8",
        "symbol": "SLC6A8",
        "name": "solute carrier family 6 member 8",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/slc6a8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 12,
    "url": "https://dantelabs.com/genes/gatm/variants",
    "items": [
      {
        "slug": "a185p",
        "name": "A185P",
        "commonName": null,
        "symbol": "GATM",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.553G>C",
        "position": 45368192,
        "grch37Position": 45660390,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/gatm/variants/a185p"
      },
      {
        "slug": "c-484plus1g-t",
        "name": "c.484+1G>T",
        "commonName": null,
        "symbol": "GATM",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 45369325,
        "grch37Position": 45661523,
        "part": {
          "kind": "intron",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/gatm/variants/c-484plus1g-t"
      },
      {
        "slug": "m371nfs6",
        "name": "M371Nfs*6",
        "commonName": null,
        "symbol": "GATM",
        "classification": "pathogenic",
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        "hgvsC": "c.1111dup",
        "position": 45363947,
        "grch37Position": 45656145,
        "part": {
          "kind": "exon",
          "number": 8
        },
        "url": "https://dantelabs.com/genes/gatm/variants/m371nfs6"
      },
      {
        "slug": "p320lfs41",
        "name": "P320Lfs*41",
        "commonName": null,
        "symbol": "GATM",
        "classification": "likely-pathogenic",
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        "hgvsC": "c.959del",
        "position": 45366064,
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          "number": 6
        },
        "url": "https://dantelabs.com/genes/gatm/variants/p320lfs41"
      },
      {
        "slug": "r169x",
        "name": "R169X",
        "commonName": null,
        "symbol": "GATM",
        "classification": "pathogenic",
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        "hgvsC": "c.505C>T",
        "position": 45368240,
        "grch37Position": 45660438,
        "part": {
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          "number": 4
        },
        "url": "https://dantelabs.com/genes/gatm/variants/r169x"
      },
      {
        "slug": "r260x",
        "name": "R260X",
        "commonName": null,
        "symbol": "GATM",
        "classification": "likely-pathogenic",
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        "hgvsC": "c.778C>T",
        "position": 45366406,
        "grch37Position": 45658604,
        "part": {
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          "number": 5
        },
        "url": "https://dantelabs.com/genes/gatm/variants/r260x"
      },
      {
        "slug": "r413q",
        "name": "R413Q",
        "commonName": null,
        "symbol": "GATM",
        "classification": "likely-pathogenic",
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        "hgvsC": "c.1238G>A",
        "position": 45362143,
        "grch37Position": 45654341,
        "part": {
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          "number": 9
        },
        "url": "https://dantelabs.com/genes/gatm/variants/r413q"
      },
      {
        "slug": "r413w",
        "name": "R413W",
        "commonName": null,
        "symbol": "GATM",
        "classification": "likely-pathogenic",
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        "hgvsC": "c.1237C>T",
        "position": 45362144,
        "grch37Position": 45654342,
        "part": {
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          "number": 9
        },
        "url": "https://dantelabs.com/genes/gatm/variants/r413w"
      },
      {
        "slug": "w72x",
        "name": "W72X",
        "commonName": null,
        "symbol": "GATM",
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        "position": 45376673,
        "grch37Position": 45668871,
        "part": {
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          "number": 2
        },
        "url": "https://dantelabs.com/genes/gatm/variants/w72x"
      },
      {
        "slug": "w149x",
        "name": "W149X",
        "commonName": null,
        "symbol": "GATM",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.446G>A",
        "position": 45369364,
        "grch37Position": 45661562,
        "part": {
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          "number": 3
        },
        "url": "https://dantelabs.com/genes/gatm/variants/w149x"
      },
      {
        "slug": "w210x",
        "name": "W210X",
        "commonName": null,
        "symbol": "GATM",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.629G>A",
        "position": 45368116,
        "grch37Position": 45660314,
        "part": {
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        },
        "url": "https://dantelabs.com/genes/gatm/variants/w210x"
      },
      {
        "slug": "y203s",
        "name": "Y203S",
        "commonName": null,
        "symbol": "GATM",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.608A>C",
        "position": 45368137,
        "grch37Position": 45660335,
        "part": {
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          "number": 4
        },
        "url": "https://dantelabs.com/genes/gatm/variants/y203s"
      }
    ]
  }
}