{
  "url": "https://dantelabs.com/hu/genes/iqcb1",
  "gene": {
    "slug": "iqcb1",
    "symbol": "IQCB1",
    "name": "IQ motif containing B1",
    "hgnc": "HGNC:28949",
    "summary": null,
    "location": "3q13.33",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA0036",
      "NPHP5",
      "SLSN5"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000173226",
    "entrezId": 9657,
    "omim": [
      "609237"
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    "uniprot": [
      "Q15051"
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    "model": {
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      "release": "v1.5",
      "chrom": "3",
      "start": 121769761,
      "end": 121835060,
      "strand": "-",
      "ensemblTranscript": "ENST00000310864.11",
      "refseqTranscript": "NM_001023570.4",
      "ensemblProtein": "ENSP00000311505.6",
      "refseqProtein": "NP_001018864.2",
      "exons": [
        {
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      ],
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    },
    "grch37": {
      "build": "GRCh37",
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      "chrom": "3",
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      "end": 121553926,
      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "STXBP5L",
          "ensemblId": "ENSG00000145087",
          "biotype": "protein_coding",
          "start": 120908072,
          "end": 121424761,
          "strand": "+",
          "slug": "stxbp5l"
        },
        {
          "symbol": "POLQ",
          "ensemblId": "ENSG00000051341",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "polq"
        },
        {
          "symbol": "ARGFX",
          "ensemblId": "ENSG00000186103",
          "biotype": "protein_coding",
          "start": 121567949,
          "end": 121590622,
          "strand": "+",
          "slug": "argfx"
        },
        {
          "symbol": "FBXO40",
          "ensemblId": "ENSG00000163833",
          "biotype": "protein_coding",
          "start": 121592886,
          "end": 121630434,
          "strand": "+",
          "slug": "fbxo40"
        },
        {
          "symbol": "HCLS1",
          "ensemblId": "ENSG00000180353",
          "biotype": "protein_coding",
          "start": 121631399,
          "end": 121660927,
          "strand": "-",
          "slug": "hcls1"
        },
        {
          "symbol": "GOLGB1",
          "ensemblId": "ENSG00000173230",
          "biotype": "protein_coding",
          "start": 121663189,
          "end": 121749966,
          "strand": "-",
          "slug": "golgb1"
        },
        {
          "symbol": "EAF2",
          "ensemblId": "ENSG00000145088",
          "biotype": "protein_coding",
          "start": 121835164,
          "end": 121888073,
          "strand": "+",
          "slug": "eaf2"
        },
        {
          "symbol": "SLC15A2",
          "ensemblId": "ENSG00000163406",
          "biotype": "protein_coding",
          "start": 121894355,
          "end": 121944188,
          "strand": "+",
          "slug": "slc15a2"
        },
        {
          "symbol": "ILDR1",
          "ensemblId": "ENSG00000145103",
          "biotype": "protein_coding",
          "start": 121987322,
          "end": 122022282,
          "strand": "-",
          "slug": "ildr1"
        },
        {
          "symbol": "CD86",
          "ensemblId": "ENSG00000114013",
          "biotype": "protein_coding",
          "start": 122055356,
          "end": 122121557,
          "strand": "+",
          "slug": "cd86"
        },
        {
          "symbol": "CASR",
          "ensemblId": "ENSG00000036828",
          "biotype": "protein_coding",
          "start": 122183665,
          "end": 122291629,
          "strand": "+",
          "slug": "casr"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "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": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/nephronophthisis-senior-loken-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-full-field-electroretinogram",
        "name": "Abnormal full-field electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram"
      },
      {
        "slug": "abnormal-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      },
      {
        "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": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellar-vermis",
        "name": "Aplasia/Hypoplasia of the cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellar-vermis"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "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": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "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": "frequent",
        "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": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "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": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "eye-poking",
        "name": "Eye poking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eye-poking"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "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": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "severely-reduced-visual-acuity",
        "name": "Marked vision impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "optic-disc-drusen",
        "name": "Optic disc drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-disc-drusen"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "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": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "slow-pupillary-light-response",
        "name": "Slow pupillary light response",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slow-pupillary-light-response"
      },
      {
        "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": "cep164",
        "symbol": "CEP164",
        "name": "centrosomal protein 164",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep164"
      },
      {
        "slug": "ift54",
        "symbol": "IFT54",
        "name": "intraflagellar transport 54",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ift54"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "name": "nephrocystin 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/nphp3"
      },
      {
        "slug": "nphp4",
        "symbol": "NPHP4",
        "name": "nephrocystin 4",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/nphp4"
      },
      {
        "slug": "sdccag8",
        "symbol": "SDCCAG8",
        "name": "SHH signaling and ciliogenesis regulator SDCCAG8",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/sdccag8"
      },
      {
        "slug": "wdr19",
        "symbol": "WDR19",
        "name": "WD repeat domain 19",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/wdr19"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}