{
  "url": "https://dantelabs.com/no/genes/nphp4",
  "gene": {
    "slug": "nphp4",
    "symbol": "NPHP4",
    "name": "nephrocystin 4",
    "hgnc": "HGNC:19104",
    "summary": null,
    "location": "1p36.31",
    "locusType": "gene with protein product",
    "aliases": [
      "SLSN4",
      "KIAA0673",
      "POC10"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000131697",
    "entrezId": 261734,
    "omim": [
      "607215"
    ],
    "uniprot": [
      "O75161"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 5862811,
      "end": 5992425,
      "strand": "-",
      "ensemblTranscript": "ENST00000378156.9",
      "refseqTranscript": "NM_015102.5",
      "ensemblProtein": "ENSP00000367398.4",
      "refseqProtein": "NP_055917.1",
      "exons": [
        {
          "start": 5862811,
          "end": 5863405
        },
        {
          "start": 5863890,
          "end": 5864033
        },
        {
          "start": 5864338,
          "end": 5864517
        },
        {
          "start": 5865102,
          "end": 5865273
        },
        {
          "start": 5866373,
          "end": 5866458
        },
        {
          "start": 5867030,
          "end": 5867115
        },
        {
          "start": 5867740,
          "end": 5867896
        },
        {
          "start": 5873252,
          "end": 5873335
        },
        {
          "start": 5874471,
          "end": 5874657
        },
        {
          "start": 5874874,
          "end": 5875100
        },
        {
          "start": 5877093,
          "end": 5877298
        },
        {
          "start": 5880114,
          "end": 5880239
        },
        {
          "start": 5887286,
          "end": 5887466
        },
        {
          "start": 5890868,
          "end": 5891028
        },
        {
          "start": 5904617,
          "end": 5904804
        },
        {
          "start": 5905292,
          "end": 5905483
        },
        {
          "start": 5905632,
          "end": 5905783
        },
        {
          "start": 5907115,
          "end": 5907222
        },
        {
          "start": 5909152,
          "end": 5909213
        },
        {
          "start": 5927649,
          "end": 5927787
        },
        {
          "start": 5933147,
          "end": 5933329
        },
        {
          "start": 5947104,
          "end": 5947230
        },
        {
          "start": 5948070,
          "end": 5948251
        },
        {
          "start": 5952700,
          "end": 5952836
        },
        {
          "start": 5961794,
          "end": 5961949
        },
        {
          "start": 5967299,
          "end": 5967363
        },
        {
          "start": 5969087,
          "end": 5969259
        },
        {
          "start": 5978270,
          "end": 5978413
        },
        {
          "start": 5986155,
          "end": 5986327
        },
        {
          "start": 5992244,
          "end": 5992425
        }
      ],
      "cds": {
        "start": 5863265,
        "end": 5986289
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 5922871,
      "end": 6052533,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 5427618,
      "end": 6427617,
      "genes": [
        {
          "symbol": "KCNAB2",
          "ensemblId": "ENSG00000069424",
          "biotype": "protein_coding",
          "start": 5990927,
          "end": 6101193,
          "strand": "+",
          "slug": "kcnab2"
        },
        {
          "symbol": "CHD5",
          "ensemblId": "ENSG00000116254",
          "biotype": "protein_coding",
          "start": 6101787,
          "end": 6180356,
          "strand": "-",
          "slug": "chd5"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285629",
          "biotype": "protein_coding",
          "start": 6159430,
          "end": 6197757,
          "strand": "-"
        },
        {
          "symbol": "RPL22",
          "ensemblId": "ENSG00000116251",
          "biotype": "protein_coding",
          "start": 6185020,
          "end": 6209389,
          "strand": "-",
          "slug": "rpl22"
        },
        {
          "symbol": "RNF207",
          "ensemblId": "ENSG00000158286",
          "biotype": "protein_coding",
          "start": 6205392,
          "end": 6224634,
          "strand": "+",
          "slug": "rnf207"
        },
        {
          "symbol": "ICMT",
          "ensemblId": "ENSG00000116237",
          "biotype": "protein_coding",
          "start": 6221193,
          "end": 6235997,
          "strand": "-",
          "slug": "icmt"
        },
        {
          "symbol": "HES3",
          "ensemblId": "ENSG00000173673",
          "biotype": "protein_coding",
          "start": 6241481,
          "end": 6246656,
          "strand": "+",
          "slug": "hes3"
        },
        {
          "symbol": "GPR153",
          "ensemblId": "ENSG00000158292",
          "biotype": "protein_coding",
          "start": 6247347,
          "end": 6261104,
          "strand": "-",
          "slug": "gpr153"
        },
        {
          "symbol": "ACOT7",
          "ensemblId": "ENSG00000097021",
          "biotype": "protein_coding",
          "start": 6264268,
          "end": 6393789,
          "strand": "-",
          "slug": "acot7"
        },
        {
          "symbol": "HES2",
          "ensemblId": "ENSG00000069812",
          "biotype": "protein_coding",
          "start": 6412418,
          "end": 6424690,
          "strand": "-",
          "slug": "hes2"
        },
        {
          "symbol": "ESPN",
          "ensemblId": "ENSG00000187017",
          "biotype": "protein_coding",
          "start": 6424770,
          "end": 6461367,
          "strand": "+",
          "slug": "espn"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "nephronophthisis-senior-loken-syndrome",
        "name": "Nefronoftise og Senior-Løkens syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0017842",
            "name": "Senior-Løkens syndrom",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": "En form for nefronoftise kombinert med degenerasjon av netthinnen, som kan føre til tidlig synstap.",
            "management": "Når du vet om dette, bør du henvises til øyeundersøkelse i tillegg til nyreovervåking.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019005",
            "name": "Nefronoftise",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "En recessivt arvet nyresykdom, forårsaket av varianter i NPHP1 og andre cilie-gener, der progressiv tubulointerstitiell arr fører til nyresvikt, vanligvis i løpet av de tre første tiårene av livet.",
            "management": "Når du vet om dette, kan nyrefunksjonen overvåkes regelmessig, dialyse eller transplantasjon planlegges i tide, og slektninger kan testes for bærerstatus.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/nephronophthisis-senior-loken-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormality-of-bone-mineral-density",
        "name": "Abnormality of bone mineral density",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-bone-mineral-density"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cone-shaped-epiphysis",
        "name": "Cone-shaped end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cone-shaped-epiphysis"
      },
      {
        "slug": "premature-ovarian-insufficiency",
        "name": "Early menopause",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency"
      },
      {
        "slug": "congenital-hepatic-fibrosis",
        "name": "Excessive buildup of connective tissue and scarring of liver at birth",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-hepatic-fibrosis"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "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": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "renal-corticomedullary-cysts",
        "name": "Renal corticomedullary cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-corticomedullary-cysts"
      },
      {
        "slug": "renal-tubular-atrophy",
        "name": "Renal tubular atrophy",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-tubular-atrophy"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "rotary-nystagmus",
        "name": "Rotary nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rotary-nystagmus"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "tubulointerstitial-fibrosis",
        "name": "Tubulointerstitial fibrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/tubulointerstitial-fibrosis"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "cep164",
        "symbol": "CEP164",
        "name": "centrosomal protein 164",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/cep164"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "name": "nephrocystin 3",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/nphp3"
      },
      {
        "slug": "wdr19",
        "symbol": "WDR19",
        "name": "WD repeat domain 19",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/wdr19"
      },
      {
        "slug": "adamts9",
        "symbol": "ADAMTS9",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/adamts9"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/anks6"
      },
      {
        "slug": "cep83",
        "symbol": "CEP83",
        "name": "centrosomal protein 83",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cep83"
      },
      {
        "slug": "dcdc2",
        "symbol": "DCDC2",
        "name": "doublecortin domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dcdc2"
      },
      {
        "slug": "glis2",
        "symbol": "GLIS2",
        "name": "GLIS family zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/glis2"
      },
      {
        "slug": "ift54",
        "symbol": "IFT54",
        "name": "intraflagellar transport 54",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/ift54"
      },
      {
        "slug": "invs",
        "symbol": "INVS",
        "name": "inversin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/invs"
      },
      {
        "slug": "iqcb1",
        "symbol": "IQCB1",
        "name": "IQ motif containing B1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/iqcb1"
      },
      {
        "slug": "mapkbp1",
        "symbol": "MAPKBP1",
        "name": "mitogen-activated protein kinase binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/mapkbp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}