{
  "url": "https://dantelabs.com/it/genes/rragd",
  "gene": {
    "slug": "rragd",
    "symbol": "RRAGD",
    "name": "Ras related GTP binding D",
    "hgnc": "HGNC:19903",
    "summary": null,
    "location": "6q15",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZP761H171",
      "bA11D8.2.1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000025039",
    "entrezId": 58528,
    "omim": [
      "608268"
    ],
    "uniprot": [
      "Q9NQL2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 89364616,
      "end": 89412273,
      "strand": "-",
      "ensemblTranscript": "ENST00000369415.9",
      "refseqTranscript": "NM_021244.5",
      "ensemblProtein": "ENSP00000358423.4",
      "refseqProtein": "NP_067067.1",
      "exons": [
        {
          "start": 89364616,
          "end": 89368207
        },
        {
          "start": 89372437,
          "end": 89372585
        },
        {
          "start": 89377671,
          "end": 89377813
        },
        {
          "start": 89379224,
          "end": 89379338
        },
        {
          "start": 89380168,
          "end": 89380367
        },
        {
          "start": 89387295,
          "end": 89387590
        },
        {
          "start": 89411846,
          "end": 89412273
        }
      ],
      "cds": {
        "start": 89368056,
        "end": 89411993
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 90074355,
      "end": 90121989,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 88888445,
      "end": 89888444,
      "genes": [
        {
          "symbol": "RNGTT",
          "ensemblId": "ENSG00000111880",
          "biotype": "protein_coding",
          "start": 88607995,
          "end": 88963636,
          "strand": "-",
          "slug": "rngtt"
        },
        {
          "symbol": "PNRC1",
          "ensemblId": "ENSG00000146278",
          "biotype": "protein_coding",
          "start": 89080747,
          "end": 89087711,
          "strand": "+",
          "slug": "pnrc1"
        },
        {
          "symbol": "SRSF12",
          "ensemblId": "ENSG00000154548",
          "biotype": "protein_coding",
          "start": 89093949,
          "end": 89118086,
          "strand": "-",
          "slug": "srsf12"
        },
        {
          "symbol": "PM20D2",
          "ensemblId": "ENSG00000146281",
          "biotype": "protein_coding",
          "start": 89145999,
          "end": 89165565,
          "strand": "+",
          "slug": "pm20d2"
        },
        {
          "symbol": "GABRR1",
          "ensemblId": "ENSG00000146276",
          "biotype": "protein_coding",
          "start": 89177504,
          "end": 89231278,
          "strand": "-",
          "slug": "gabrr1"
        },
        {
          "symbol": "GABRR2",
          "ensemblId": "ENSG00000111886",
          "biotype": "protein_coding",
          "start": 89254464,
          "end": 89315299,
          "strand": "-",
          "slug": "gabrr2"
        },
        {
          "symbol": "UBE2J1",
          "ensemblId": "ENSG00000198833",
          "biotype": "protein_coding",
          "start": 89321391,
          "end": 89353180,
          "strand": "-",
          "slug": "ube2j1"
        },
        {
          "symbol": "ANKRD6",
          "ensemblId": "ENSG00000135299",
          "biotype": "protein_coding",
          "start": 89433119,
          "end": 89634170,
          "strand": "+",
          "slug": "ankrd6"
        },
        {
          "symbol": "LYRM2",
          "ensemblId": "ENSG00000083099",
          "biotype": "protein_coding",
          "start": 89568144,
          "end": 89638761,
          "strand": "-",
          "slug": "lyrm2"
        },
        {
          "symbol": "MDN1",
          "ensemblId": "ENSG00000112159",
          "biotype": "protein_coding",
          "start": 89642498,
          "end": 89819809,
          "strand": "-",
          "slug": "mdn1"
        },
        {
          "symbol": "CASP8AP2",
          "ensemblId": "ENSG00000118412",
          "biotype": "protein_coding",
          "start": 89829894,
          "end": 89874436,
          "strand": "+",
          "slug": "casp8ap2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-hypomagnesemia",
        "name": "Ipomagnesiemia familiare",
        "diseases": [
          {
            "mondoId": "MONDO:0018100",
            "name": "Ipomagnesiemia primaria familiare",
            "genes": 9,
            "inheritance": null,
            "description": "Un gruppo di disturbi ereditari di dispersione del magnesio causati da varianti in geni quali CLDN16, CLDN19, TRPM6, CNNM2 e FXYD2; le forme dovute a CLDN16 e CLDN19 possono progredire verso una malattia renale cronica.",
            "management": "La supplementazione di magnesio può controllare i sintomi e alcune forme richiedono il monitoraggio della funzionalità renale e oculare.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/familial-hypomagnesemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-renal-tubular-resorption",
        "name": "Abnormal renal tubular resorption",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-renal-tubular-resorption"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "elevated-left-ventricular-end-diastolic-diameter",
        "name": "Elevated left ventricular end-diastolic diameter",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-left-ventricular-end-diastolic-diameter"
      },
      {
        "slug": "increased-circulating-aldosterone-concentration",
        "name": "Elevated plasma aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "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": "pulmonary-edema",
        "name": "Excess fluid in lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-edema"
      },
      {
        "slug": "pericardial-effusion",
        "name": "Fluid around heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pericardial-effusion"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hepatic-calcification",
        "name": "Hepatic calcification",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-calcification"
      },
      {
        "slug": "hyperprostaglandinuria",
        "name": "High urine prostaglandin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperprostaglandinuria"
      },
      {
        "slug": "hyperkinetic-movements",
        "name": "Hyperactive movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkinetic-movements"
      },
      {
        "slug": "hypermagnesiuria",
        "name": "Hypermagnesiuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypermagnesiuria"
      },
      {
        "slug": "hypocalcemic-tetany",
        "name": "Hypocalcemic tetany",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocalcemic-tetany"
      },
      {
        "slug": "hypokalemic-metabolic-alkalosis",
        "name": "Hypokalemic metabolic alkalosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypokalemic-metabolic-alkalosis"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "tetany",
        "name": "Intermittent involuntary muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tetany"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypomagnesemia",
        "name": "Low blood magnesium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypomagnesemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "myoclonic-spasms",
        "name": "Myoclonic spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonic-spasms"
      },
      {
        "slug": "reduced-left-ventricular-ejection-fraction",
        "name": "Reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      }
    ],
    "related": [
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/atp1a1"
      },
      {
        "slug": "cldn16",
        "symbol": "CLDN16",
        "name": "claudin 16",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cldn16"
      },
      {
        "slug": "cldn19",
        "symbol": "CLDN19",
        "name": "claudin 19",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cldn19"
      },
      {
        "slug": "cnnm2",
        "symbol": "CNNM2",
        "name": "cyclin and CBS domain divalent metal cation transport mediator 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/cnnm2"
      },
      {
        "slug": "fxyd2",
        "symbol": "FXYD2",
        "name": "FXYD domain containing ion transport regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/fxyd2"
      },
      {
        "slug": "trpm6",
        "symbol": "TRPM6",
        "name": "transient receptor potential cation channel subfamily M member 6",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/trpm6"
      },
      {
        "slug": "trpm7",
        "symbol": "TRPM7",
        "name": "transient receptor potential cation channel subfamily M member 7",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/trpm7"
      },
      {
        "slug": "trpv6",
        "symbol": "TRPV6",
        "name": "transient receptor potential cation channel subfamily V member 6",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/trpv6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}