{
  "url": "https://dantelabs.com/el/genes/slc19a2",
  "gene": {
    "slug": "slc19a2",
    "symbol": "SLC19A2",
    "name": "solute carrier family 19 member 2",
    "hgnc": "HGNC:10938",
    "summary": null,
    "location": "1q24.2",
    "locusType": "gene with protein product",
    "aliases": [
      "THTR1",
      "ThT1"
    ],
    "previousSymbols": [
      "TRMA"
    ],
    "ensemblId": "ENSG00000117479",
    "entrezId": 10560,
    "omim": [
      "603941"
    ],
    "uniprot": [
      "O60779"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 169463909,
      "end": 169485944,
      "strand": "-",
      "ensemblTranscript": "ENST00000236137.10",
      "refseqTranscript": "NM_006996.3",
      "ensemblProtein": "ENSP00000236137.5",
      "refseqProtein": "NP_008927.1",
      "exons": [
        {
          "start": 169463909,
          "end": 169465977
        },
        {
          "start": 169468111,
          "end": 169468252
        },
        {
          "start": 169468644,
          "end": 169468836
        },
        {
          "start": 169469964,
          "end": 169470186
        },
        {
          "start": 169477155,
          "end": 169477757
        },
        {
          "start": 169485563,
          "end": 169485944
        }
      ],
      "cds": {
        "start": 169465849,
        "end": 169485766
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 169433147,
      "end": 169455241,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 168974927,
      "end": 169974926,
      "genes": [
        {
          "symbol": "ATP1B1",
          "ensemblId": "ENSG00000143153",
          "biotype": "protein_coding",
          "start": 169105697,
          "end": 169311254,
          "strand": "+",
          "slug": "atp1b1"
        },
        {
          "symbol": "NME7",
          "ensemblId": "ENSG00000143156",
          "biotype": "protein_coding",
          "start": 169132528,
          "end": 169367975,
          "strand": "-",
          "slug": "nme7"
        },
        {
          "symbol": "BLZF1",
          "ensemblId": "ENSG00000117475",
          "biotype": "protein_coding",
          "start": 169367967,
          "end": 169397302,
          "strand": "+",
          "slug": "blzf1"
        },
        {
          "symbol": "CCDC181",
          "ensemblId": "ENSG00000117477",
          "biotype": "protein_coding",
          "start": 169394870,
          "end": 169460669,
          "strand": "-",
          "slug": "ccdc181"
        },
        {
          "symbol": "F5",
          "ensemblId": "ENSG00000198734",
          "biotype": "protein_coding",
          "start": 169511951,
          "end": 169586699,
          "strand": "-",
          "slug": "f5"
        },
        {
          "symbol": "SELP",
          "ensemblId": "ENSG00000174175",
          "biotype": "protein_coding",
          "start": 169588421,
          "end": 169630193,
          "strand": "-",
          "slug": "selp"
        },
        {
          "symbol": "FIRRM",
          "ensemblId": "ENSG00000000460",
          "biotype": "protein_coding",
          "start": 169662007,
          "end": 169873258,
          "strand": "+",
          "slug": "firrm"
        },
        {
          "symbol": "SELL",
          "ensemblId": "ENSG00000188404",
          "biotype": "protein_coding",
          "start": 169690665,
          "end": 169712202,
          "strand": "-",
          "slug": "sell"
        },
        {
          "symbol": "SELE",
          "ensemblId": "ENSG00000007908",
          "biotype": "protein_coding",
          "start": 169722640,
          "end": 169764705,
          "strand": "-",
          "slug": "sele"
        },
        {
          "symbol": "METTL18",
          "ensemblId": "ENSG00000171806",
          "biotype": "protein_coding",
          "start": 169791741,
          "end": 169794991,
          "strand": "-",
          "slug": "mettl18"
        },
        {
          "symbol": "SCYL3",
          "ensemblId": "ENSG00000000457",
          "biotype": "protein_coding",
          "start": 169816039,
          "end": 169894267,
          "strand": "-",
          "slug": "scyl3"
        },
        {
          "symbol": "KIFAP3",
          "ensemblId": "ENSG00000075945",
          "biotype": "protein_coding",
          "start": 169921072,
          "end": 170085208,
          "strand": "-",
          "slug": "kifap3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "thiamine-transporter-and-metabolism-disorders",
        "name": "Διαταραχές μεταφοράς και μεταβολισμού της θειαμίνης",
        "diseases": [
          {
            "mondoId": "MONDO:0017578",
            "name": "Διαταραχές μεταφοράς και μεταβολισμού της θειαμίνης",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Κληρονομικές ελλείψεις των μεταφορέων θειαμίνης ή της ενεργοποίησης της θειαμίνης, που προκαλούνται από γονίδια όπως τα SLC19A2, SLC19A3, TPK1 και SLC25A19, και που μπορεί να προκαλέσουν αναιμία, διαβήτη και απώλεια ακοής ή επεισόδια σοβαρής εγκεφαλικής δυσλειτουργίας.",
            "management": "Η γνώση επιτρέπει την έγκαιρη θεραπεία με θειαμίνη σε υψηλές δόσεις, και με βιοτίνη όπου ενδείκνυται, η οποία μπορεί να προλάβει ή να μειώσει σοβαρές επιπλοκές σε αρκετές από αυτές τις διαταραχές.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/thiamine-transporter-and-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "abnormality-of-the-skin",
        "name": "Abnormality of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-skin"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "situs-inversus-totalis",
        "name": "All organs on wrong side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/situs-inversus-totalis"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cone-cone-rod-dystrophy",
        "name": "Cone/cone-rod dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "megaloblastic-anemia",
        "name": "Megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/megaloblastic-anemia"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "paroxysmal-atrial-tachycardia",
        "name": "Paroxysmal atrial tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/paroxysmal-atrial-tachycardia"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sideroblastic-anemia",
        "name": "Sideroblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/sideroblastic-anemia"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "thiamine-responsive-megaloblastic-anemia",
        "name": "Thiamine-responsive megaloblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thiamine-responsive-megaloblastic-anemia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-loss"
      }
    ],
    "related": [
      {
        "slug": "slc19a3",
        "symbol": "SLC19A3",
        "name": "solute carrier family 19 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/slc19a3"
      },
      {
        "slug": "slc25a19",
        "symbol": "SLC25A19",
        "name": "solute carrier family 25 member 19",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/slc25a19"
      },
      {
        "slug": "tpk1",
        "symbol": "TPK1",
        "name": "thiamin pyrophosphokinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tpk1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}