{
  "url": "https://dantelabs.com/lt/genes/trnt1",
  "gene": {
    "slug": "trnt1",
    "symbol": "TRNT1",
    "name": "tRNA nucleotidyl transferase 1",
    "hgnc": "HGNC:17341",
    "summary": null,
    "location": "3p26.2",
    "locusType": "gene with protein product",
    "aliases": [
      "MtCCA",
      "CGI-47",
      "CCA1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000072756",
    "entrezId": 51095,
    "omim": [
      "612907"
    ],
    "uniprot": [
      "Q96Q11"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 3126940,
      "end": 3149023,
      "strand": "+",
      "ensemblTranscript": "ENST00000251607.11",
      "refseqTranscript": "NM_182916.3",
      "ensemblProtein": "ENSP00000251607.6",
      "refseqProtein": "NP_886552.3",
      "exons": [
        {
          "start": 3126940,
          "end": 3126990
        },
        {
          "start": 3129014,
          "end": 3129188
        },
        {
          "start": 3137260,
          "end": 3137453
        },
        {
          "start": 3140510,
          "end": 3140648
        },
        {
          "start": 3144584,
          "end": 3144710
        },
        {
          "start": 3146430,
          "end": 3146623
        },
        {
          "start": 3147450,
          "end": 3147703
        },
        {
          "start": 3147906,
          "end": 3149023
        }
      ],
      "cds": {
        "start": 3129041,
        "end": 3148154
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 3168600,
      "end": 3192563,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 2637982,
      "end": 3637981,
      "genes": [
        {
          "symbol": "CNTN4",
          "ensemblId": "ENSG00000144619",
          "biotype": "protein_coding",
          "start": 2098813,
          "end": 3057963,
          "strand": "+",
          "slug": "cntn4"
        },
        {
          "symbol": "IL5RA",
          "ensemblId": "ENSG00000091181",
          "biotype": "protein_coding",
          "start": 3066324,
          "end": 3126613,
          "strand": "-",
          "slug": "il5ra"
        },
        {
          "symbol": "CRBN",
          "ensemblId": "ENSG00000113851",
          "biotype": "protein_coding",
          "start": 3144628,
          "end": 3179733,
          "strand": "-",
          "slug": "crbn"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-sideroblastic-anaemias",
        "name": "Paveldimos sideroblastinės anemijos",
        "diseases": [
          {
            "mondoId": "MONDO:0020099",
            "name": "Paveldima sideroblastinė anemija",
            "genes": 8,
            "inheritance": null,
            "description": "Būklių grupė, kurią sukelia genų, pavyzdžiui, ALAS2 ir ABCB7 (X chromosomoje susietas), SLC25A38, GLRX5, PUS1, YARS2 ir TRNT1 (recesyvieji) ir HSPA9 (dominantinis), pakitimai; kai kurios formos taip pat pažeidžia raumenis, nervų sistemą ar imuninę sistemą.",
            "management": "X chromosomoje susietai ALAS2 formai dažnai padeda vitaminas B6 (piridoksinas), o diagnozė padeda vadovauti geležies pertekliaus stebėjimui ir atskirti šias būkles nuo įgytojo mielodisplazinio sindromo.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/hereditary-sideroblastic-anaemias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "brittle-hair",
        "name": "Brittle hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brittle-hair"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "communicating-hydrocephalus",
        "name": "Communicating hydrocephalus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/communicating-hydrocephalus"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-iron-concentration",
        "name": "Decreased circulating iron concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-iron-concentration"
      },
      {
        "slug": "decreased-mean-corpuscular-volume",
        "name": "Decreased mean corpuscular volume",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-mean-corpuscular-volume"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "elliptocytosis",
        "name": "Elliptocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elliptocytosis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epiretinal-membrane",
        "name": "Epiretinal membrane",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/epiretinal-membrane"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "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": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypochromia",
        "name": "Hypochromia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypochromia"
      },
      {
        "slug": "hypochromic-microcytic-anemia",
        "name": "Hypochromic microcytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypochromic-microcytic-anemia"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "macular-edema",
        "name": "Macular edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macular-edema"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "periodic-fever",
        "name": "Periodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/periodic-fever"
      },
      {
        "slug": "peripheral-retinal-atrophy",
        "name": "Peripheral retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-retinal-atrophy"
      },
      {
        "slug": "photoreceptor-layer-loss-on-macular-oct",
        "name": "Photoreceptor layer loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photoreceptor-layer-loss-on-macular-oct"
      },
      {
        "slug": "poikilocytosis",
        "name": "Poikilocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poikilocytosis"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy"
      },
      {
        "slug": "ring-scotoma",
        "name": "Ring scotoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/ring-scotoma"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "schistocytosis",
        "name": "Schistocytosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/schistocytosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "sideroblastic-anemia",
        "name": "Sideroblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sideroblastic-anemia"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "anisocytosis",
        "name": "Unequal size of red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anisocytosis"
      }
    ],
    "related": [
      {
        "slug": "abcb7",
        "symbol": "ABCB7",
        "name": "ATP binding cassette subfamily B member 7",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abcb7"
      },
      {
        "slug": "alas2",
        "symbol": "ALAS2",
        "name": "5'-aminolevulinate synthase 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/alas2"
      },
      {
        "slug": "glrx5",
        "symbol": "GLRX5",
        "name": "glutaredoxin 5",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/glrx5"
      },
      {
        "slug": "hspa9",
        "symbol": "HSPA9",
        "name": "heat shock protein family A (Hsp70) member 9",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/hspa9"
      },
      {
        "slug": "pus1",
        "symbol": "PUS1",
        "name": "pseudouridine synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/pus1"
      },
      {
        "slug": "slc25a38",
        "symbol": "SLC25A38",
        "name": "solute carrier family 25 member 38",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/slc25a38"
      },
      {
        "slug": "yars2",
        "symbol": "YARS2",
        "name": "tyrosyl-tRNA synthetase 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/yars2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}