{
  "url": "https://dantelabs.com/hu/genes/cep164",
  "gene": {
    "slug": "cep164",
    "symbol": "CEP164",
    "name": "centrosomal protein 164",
    "hgnc": "HGNC:29182",
    "summary": null,
    "location": "11q23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA1052",
      "NPHP15"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000110274",
    "entrezId": 22897,
    "omim": [
      "614848"
    ],
    "uniprot": [
      "Q9UPV0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 117327854,
      "end": 117413266,
      "strand": "+",
      "ensemblTranscript": "ENST00000278935.8",
      "refseqTranscript": "NM_014956.5",
      "ensemblProtein": "ENSP00000278935.3",
      "refseqProtein": "NP_055771.4",
      "exons": [
        {
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      ],
      "cds": {
        "start": 117338587,
        "end": 117412168
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 117185273,
      "end": 117283984,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 116870560,
      "end": 117870559,
      "genes": [
        {
          "symbol": "SIK3",
          "ensemblId": "ENSG00000160584",
          "biotype": "protein_coding",
          "start": 116843402,
          "end": 117098463,
          "strand": "-",
          "slug": "sik3"
        },
        {
          "symbol": "PAFAH1B2",
          "ensemblId": "ENSG00000168092",
          "biotype": "protein_coding",
          "start": 117144278,
          "end": 117176894,
          "strand": "+",
          "slug": "pafah1b2"
        },
        {
          "symbol": "SIDT2",
          "ensemblId": "ENSG00000149577",
          "biotype": "protein_coding",
          "start": 117178730,
          "end": 117197452,
          "strand": "+",
          "slug": "sidt2"
        },
        {
          "symbol": "TAGLN",
          "ensemblId": "ENSG00000149591",
          "biotype": "protein_coding",
          "start": 117197509,
          "end": 117207464,
          "strand": "+",
          "slug": "tagln"
        },
        {
          "symbol": "PCSK7",
          "ensemblId": "ENSG00000160613",
          "biotype": "protein_coding",
          "start": 117202588,
          "end": 117232628,
          "strand": "-",
          "slug": "pcsk7"
        },
        {
          "symbol": "RNF214",
          "ensemblId": "ENSG00000167257",
          "biotype": "protein_coding",
          "start": 117232154,
          "end": 117287429,
          "strand": "+",
          "slug": "rnf214"
        },
        {
          "symbol": "BACE1",
          "ensemblId": "ENSG00000186318",
          "biotype": "protein_coding",
          "start": 117285232,
          "end": 117316291,
          "strand": "-",
          "slug": "bace1"
        },
        {
          "symbol": "DSCAML1",
          "ensemblId": "ENSG00000177103",
          "biotype": "protein_coding",
          "start": 117427772,
          "end": 117817525,
          "strand": "-",
          "slug": "dscaml1"
        },
        {
          "symbol": "FXYD2",
          "ensemblId": "ENSG00000137731",
          "biotype": "protein_coding",
          "start": 117800839,
          "end": 117828734,
          "strand": "-",
          "slug": "fxyd2"
        },
        {
          "symbol": "FXYD6-FXYD2",
          "ensemblId": "ENSG00000255245",
          "biotype": "protein_coding",
          "start": 117820163,
          "end": 117876667,
          "strand": "-",
          "slug": "fxyd6-fxyd2"
        },
        {
          "symbol": "FXYD6",
          "ensemblId": "ENSG00000137726",
          "biotype": "protein_coding",
          "start": 117833023,
          "end": 117877675,
          "strand": "-",
          "slug": "fxyd6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "cep164-related-ciliopathy",
        "name": "CEP164-Related Ciliopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0700344",
            "name": "CEP164-Related Ciliopathy",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Caused by changes in both copies of the CEP164 gene, which is needed for the formation of primary cilia, small antenna-like structures on cells. It belongs to the nephronophthisis-related ciliopathies.",
            "management": "Regular monitoring of kidney function and blood pressure, with dialysis or kidney transplantation when kidney failure develops. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/cep164-related-ciliopathy"
      },
      {
        "slug": "nephronophthisis-senior-loken-syndrome",
        "name": "Nephronophthisis and Senior-Løken Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0017842",
            "name": "Senior-Løken Syndrome",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": "A form of nephronophthisis combined with retinal degeneration that can cause early vision loss.",
            "management": "Knowing prompts referral for an eye examination alongside kidney monitoring.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019005",
            "name": "Nephronophthisis",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "A recessively inherited kidney disease, caused by variants in NPHP1 and other cilia genes, in which progressive tubulointerstitial scarring leads to kidney failure, typically in the first three decades of life.",
            "management": "Knowing allows regular kidney function monitoring, timely planning for dialysis or transplantation, and carrier testing for relatives.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/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": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "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": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "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": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "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": "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": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "polydactyly",
        "name": "More than five fingers or toes on hands or feet",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polydactyly"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "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": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "name": "nephrocystin 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/nphp3"
      },
      {
        "slug": "nphp4",
        "symbol": "NPHP4",
        "name": "nephrocystin 4",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/nphp4"
      },
      {
        "slug": "wdr19",
        "symbol": "WDR19",
        "name": "WD repeat domain 19",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/wdr19"
      },
      {
        "slug": "adamts9",
        "symbol": "ADAMTS9",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adamts9"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/anks6"
      },
      {
        "slug": "cep83",
        "symbol": "CEP83",
        "name": "centrosomal protein 83",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep83"
      },
      {
        "slug": "dcdc2",
        "symbol": "DCDC2",
        "name": "doublecortin domain containing 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dcdc2"
      },
      {
        "slug": "glis2",
        "symbol": "GLIS2",
        "name": "GLIS family zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/glis2"
      },
      {
        "slug": "ift54",
        "symbol": "IFT54",
        "name": "intraflagellar transport 54",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ift54"
      },
      {
        "slug": "invs",
        "symbol": "INVS",
        "name": "inversin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/invs"
      },
      {
        "slug": "iqcb1",
        "symbol": "IQCB1",
        "name": "IQ motif containing B1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/iqcb1"
      },
      {
        "slug": "mapkbp1",
        "symbol": "MAPKBP1",
        "name": "mitogen-activated protein kinase binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/mapkbp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}