{
  "url": "https://dantelabs.com/el/genes/magt1",
  "gene": {
    "slug": "magt1",
    "symbol": "MAGT1",
    "name": "magnesium transporter 1",
    "hgnc": "HGNC:28880",
    "summary": null,
    "location": "Xq21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZp564K142",
      "IAP",
      "OST3B",
      "MRX95",
      "SLC58A1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000102158",
    "entrezId": 84061,
    "omim": [
      "300715"
    ],
    "uniprot": [
      "Q9H0U3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 77825747,
      "end": 77895435,
      "strand": "-",
      "ensemblTranscript": "ENST00000618282.5",
      "refseqTranscript": "NM_001367916.1",
      "ensemblProtein": "ENSP00000480732.1",
      "refseqProtein": "NP_001354845.1",
      "exons": [
        {
          "start": 77825747,
          "end": 77829235
        },
        {
          "start": 77830805,
          "end": 77830895
        },
        {
          "start": 77841246,
          "end": 77841320
        },
        {
          "start": 77853901,
          "end": 77853964
        },
        {
          "start": 77855501,
          "end": 77855590
        },
        {
          "start": 77856733,
          "end": 77856873
        },
        {
          "start": 77857357,
          "end": 77857497
        },
        {
          "start": 77870808,
          "end": 77870925
        },
        {
          "start": 77875428,
          "end": 77875597
        },
        {
          "start": 77895309,
          "end": 77895435
        }
      ],
      "cds": {
        "start": 77829220,
        "end": 77895410
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 77081861,
      "end": 77151090,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 77360591,
      "end": 78360590,
      "genes": [
        {
          "symbol": "FGF16",
          "ensemblId": "ENSG00000196468",
          "biotype": "protein_coding",
          "start": 77447388,
          "end": 77457278,
          "strand": "+",
          "slug": "fgf16"
        },
        {
          "symbol": "ATRX",
          "ensemblId": "ENSG00000085224",
          "biotype": "protein_coding",
          "start": 77504862,
          "end": 77786233,
          "strand": "-",
          "slug": "atrx"
        },
        {
          "symbol": "COX7B",
          "ensemblId": "ENSG00000131174",
          "biotype": "protein_coding",
          "start": 77895727,
          "end": 77907555,
          "strand": "+",
          "slug": "cox7b"
        },
        {
          "symbol": "ATP7A",
          "ensemblId": "ENSG00000165240",
          "biotype": "protein_coding",
          "start": 77910688,
          "end": 78050395,
          "strand": "+",
          "slug": "atp7a"
        },
        {
          "symbol": "PGK1",
          "ensemblId": "ENSG00000102144",
          "biotype": "protein_coding",
          "start": 77910739,
          "end": 78132378,
          "strand": "+",
          "slug": "pgk1"
        },
        {
          "symbol": "PGAM4",
          "ensemblId": "ENSG00000226784",
          "biotype": "protein_coding",
          "start": 77967949,
          "end": 77969638,
          "strand": "-",
          "slug": "pgam4"
        },
        {
          "symbol": "TAF9B",
          "ensemblId": "ENSG00000187325",
          "biotype": "protein_coding",
          "start": 78126646,
          "end": 78139705,
          "strand": "-",
          "slug": "taf9b"
        },
        {
          "symbol": "CYSLTR1",
          "ensemblId": "ENSG00000173198",
          "biotype": "protein_coding",
          "start": 78270496,
          "end": 78327845,
          "strand": "-",
          "slug": "cysltr1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "x-linked-lymphoproliferative-disease",
        "name": "Λεμφοϋπερπλαστική νόσος συνδεδεμένη με το φύλο και XMEN",
        "diseases": [
          {
            "mondoId": "MONDO:0010455",
            "name": "Νόσος XMEN (MAGT1)",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Χρόνια λοίμωξη από EBV, χαμηλά CD4 κύτταρα, κίνδυνος λεμφώματος και ελλείμματα γλυκοζυλίωσης που προκαλούνται από μεταβολές στο MAGT1.",
            "management": "Η διάγνωση καθοδηγεί την παρακολούθηση του EBV και την επιτήρηση για λέμφωμα.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/x-linked-lymphoproliferative-disease"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Άλλα έμφυτα σφάλματα της ανοσίας",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Ανοσοανεπάρκεια",
            "genes": 170,
            "inheritance": null,
            "description": "Νόσος κατά την οποία υπάρχει ανεπάρκεια ή ελάττωμα στους μηχανισμούς ανοσίας, είτε κυτταρικής είτε χυμικής φύσης.",
            "management": "Μεταμόσχευση αιμοποιητικών βλαστικών κυττάρων (HSCT) για SCID και σοβαρές PID· υποκατάσταση ανοσοσφαιρινών (IVIG/SCIG) για ανεπάρκειες αντισωμάτων· λενιολισίμπη (Joenja, FDA 2023) για APDS· γονιδιακή θεραπεία για ADA-SCID· αμπατασέπτη για ανεπάρκεια CTLA4/LRBA· προφυλακτικά αντιβιοτικά· G-CSF για CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "b-cell-lymphoma",
        "name": "B-cell lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/b-cell-lymphoma"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "chronic-active-ebv-infection",
        "name": "Chronic active EBV infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-active-ebv-infection"
      },
      {
        "slug": "decreased-cd69-upregulation-upon-tcr-activation",
        "name": "Decreased CD69 upregulation upon TCR activation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-cd69-upregulation-upon-tcr-activation"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-specific-anti-polysaccharide-antibody-concentration",
        "name": "Decreased specific anti-polysaccharide antibody concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-specific-anti-polysaccharide-antibody-concentration"
      },
      {
        "slug": "decreased-t-cell-activation",
        "name": "Decreased T cell activation",
        "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-t-cell-activation"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "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": "hodgkin-lymphoma",
        "name": "Hodgkin lymphoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hodgkin-lymphoma"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "inverted-cd4-cd8-ratio",
        "name": "Inverted CD4:CD8 ratio",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inverted-cd4-cd8-ratio"
      },
      {
        "slug": "lymphoproliferative-disorder",
        "name": "Lymphoproliferative disorder",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphoproliferative-disorder"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "persistent-cmv-viremia",
        "name": "Persistent CMV viremia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/persistent-cmv-viremia"
      },
      {
        "slug": "persistent-ebv-viremia",
        "name": "Persistent EBV viremia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/persistent-ebv-viremia"
      },
      {
        "slug": "recurrent-bronchitis",
        "name": "Recurrent bronchitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-bronchitis"
      },
      {
        "slug": "recurrent-otitis-media",
        "name": "Recurrent middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-otitis-media"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "severe-varicella-zoster-infection",
        "name": "Severe varicella zoster infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-varicella-zoster-infection"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "mediastinal-lymphadenopathy",
        "name": "Swollen lymph nodes in center of chest",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-thoracic-cavity"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mediastinal-lymphadenopathy"
      },
      {
        "slug": "type-i-transferrin-isoform-profile",
        "name": "Type I transferrin isoform profile",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-i-transferrin-isoform-profile"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}