{
  "url": "https://dantelabs.com/genes/umod",
  "gene": {
    "slug": "umod",
    "symbol": "UMOD",
    "name": "uromodulin",
    "hgnc": "HGNC:12559",
    "summary": null,
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    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
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      "release": "v1.5",
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      "strand": "-",
      "ensemblTranscript": "ENST00000396138.9",
      "refseqTranscript": "NM_003361.4",
      "ensemblProtein": "ENSP00000379442.5",
      "refseqProtein": "NP_003352.2",
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    },
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      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
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      "end": 20367623,
      "strand": "-"
    },
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      "genes": [
        {
          "symbol": "IQCK",
          "ensemblId": "ENSG00000174628",
          "biotype": "protein_coding",
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          "end": 19858467,
          "strand": "+",
          "slug": "iqck"
        },
        {
          "symbol": "GPRC5B",
          "ensemblId": "ENSG00000167191",
          "biotype": "protein_coding",
          "start": 19856691,
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          "strand": "-",
          "slug": "gprc5b"
        },
        {
          "symbol": "GPR139",
          "ensemblId": "ENSG00000180269",
          "biotype": "protein_coding",
          "start": 20028239,
          "end": 20073890,
          "strand": "-",
          "slug": "gpr139"
        },
        {
          "symbol": "GP2",
          "ensemblId": "ENSG00000169347",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "gp2"
        },
        {
          "symbol": "PDILT",
          "ensemblId": "ENSG00000169340",
          "biotype": "protein_coding",
          "start": 20359175,
          "end": 20404737,
          "strand": "-",
          "slug": "pdilt"
        },
        {
          "symbol": "ACSM5",
          "ensemblId": "ENSG00000183549",
          "biotype": "protein_coding",
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          "end": 20441337,
          "strand": "+",
          "slug": "acsm5"
        },
        {
          "symbol": "ACSM2A",
          "ensemblId": "ENSG00000183747",
          "biotype": "protein_coding",
          "start": 20444012,
          "end": 20487669,
          "strand": "+",
          "slug": "acsm2a"
        },
        {
          "symbol": "ACSM2B",
          "ensemblId": "ENSG00000066813",
          "biotype": "protein_coding",
          "start": 20533999,
          "end": 20576442,
          "strand": "-",
          "slug": "acsm2b"
        },
        {
          "symbol": "ACSM3",
          "ensemblId": "ENSG00000005187",
          "biotype": "protein_coding",
          "start": 20610243,
          "end": 20797843,
          "strand": "+",
          "slug": "acsm3"
        },
        {
          "symbol": "ACSM1",
          "ensemblId": "ENSG00000166743",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "THUMPD1",
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          "biotype": "protein_coding",
          "start": 20702816,
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          "strand": "-",
          "slug": "thumpd1"
        },
        {
          "symbol": "ERI2",
          "ensemblId": "ENSG00000196678",
          "biotype": "protein_coding",
          "start": 20780193,
          "end": 20900349,
          "strand": "-",
          "slug": "eri2"
        },
        {
          "symbol": "REXO5",
          "ensemblId": "ENSG00000005189",
          "biotype": "protein_coding",
          "start": 20806157,
          "end": 20850126,
          "strand": "+",
          "slug": "rexo5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-dominant-tubulointerstitial-kidney-disease",
        "name": "Autosomal Dominant Tubulointerstitial Kidney Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0008264",
            "name": "Autosomal Dominant Medullary Cystic Kidney Disease",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "A dominantly inherited tubulointerstitial kidney disease, including the MUC1 form, that leads to slowly progressive kidney failure in adulthood.",
            "management": "Knowing supports kidney function monitoring and careful evaluation of related living kidney donors.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0000608",
            "name": "Familial Juvenile Hyperuricemic Nephropathy",
            "genes": 5,
            "inheritance": "autosomal-dominant",
            "description": "A dominantly inherited tubulointerstitial kidney disease, most often caused by UMOD variants (and also REN or SEC61A1), with high uric acid, early gout and gradual loss of kidney function.",
            "management": "Knowing supports kidney function monitoring, gout treatment and careful evaluation of related living kidney donors; the REN form may respond to fludrocortisone.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/autosomal-dominant-tubulointerstitial-kidney-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "decreased-glomerular-filtration-rate",
        "name": "Decreased glomerular filtration rate",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-glomerular-filtration-rate"
      },
      {
        "slug": "decreased-urinary-urate",
        "name": "Decreased urinary urate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-urinary-urate"
      },
      {
        "slug": "elevated-circulating-parathyroid-hormone-level",
        "name": "Elevated circulating parathyroid hormone level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-parathyroid-hormone-level"
      },
      {
        "slug": "elevated-circulating-creatinine-concentration",
        "name": "Elevated creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatinine-concentration"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "gout",
        "name": "Gout",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gout"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "hyposthenuria",
        "name": "Hyposthenuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyposthenuria"
      },
      {
        "slug": "increased-blood-urea-nitrogen",
        "name": "Increased blood urea nitrogen",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-blood-urea-nitrogen"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "nephritis",
        "name": "Kidney inflammation",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/nephritis"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "reduced-renal-corticomedullary-differentiation",
        "name": "Reduced renal corticomedullary differentiation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-renal-corticomedullary-differentiation"
      },
      {
        "slug": "renal-corticomedullary-cysts",
        "name": "Renal corticomedullary cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-corticomedullary-cysts"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "renal-interstitial-fibrosis",
        "name": "Renal interstitial fibrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-interstitial-fibrosis"
      },
      {
        "slug": "renal-tubular-atrophy",
        "name": "Renal tubular atrophy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-tubular-atrophy"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "stage-1-chronic-kidney-disease",
        "name": "Stage 1 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stage-1-chronic-kidney-disease"
      },
      {
        "slug": "stage-2-chronic-kidney-disease",
        "name": "Stage 2 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-2-chronic-kidney-disease"
      },
      {
        "slug": "stage-3-chronic-kidney-disease",
        "name": "Stage 3 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-3-chronic-kidney-disease"
      },
      {
        "slug": "stage-4-chronic-kidney-disease",
        "name": "Stage 4 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-4-chronic-kidney-disease"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "thickened-glomerular-basement-membrane",
        "name": "Thickened glomerular basement membrane",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickened-glomerular-basement-membrane"
      },
      {
        "slug": "tubulointerstitial-nephritis",
        "name": "Tubulointerstitial nephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tubulointerstitial-nephritis"
      }
    ],
    "related": [
      {
        "slug": "muc1",
        "symbol": "MUC1",
        "name": "mucin 1, cell surface associated",
        "shared": 2,
        "url": "https://dantelabs.com/genes/muc1"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "name": "HNF1 homeobox B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/hnf1b"
      },
      {
        "slug": "ren",
        "symbol": "REN",
        "name": "renin",
        "shared": 1,
        "url": "https://dantelabs.com/genes/ren"
      },
      {
        "slug": "sec61a1",
        "symbol": "SEC61A1",
        "name": "SEC61 translocon subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/sec61a1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}