{
  "url": "https://dantelabs.com/hu/genes/aipl1",
  "gene": {
    "slug": "aipl1",
    "symbol": "AIPL1",
    "name": "AIP like 1 HSP90 co-chaperone",
    "hgnc": "HGNC:359",
    "summary": null,
    "location": "17p13.2",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "LCA4"
    ],
    "ensemblId": "ENSG00000129221",
    "entrezId": 23746,
    "omim": [
      "604392"
    ],
    "uniprot": [
      "Q9NZN9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 6423738,
      "end": 6435121,
      "strand": "-",
      "ensemblTranscript": "ENST00000381129.8",
      "refseqTranscript": "NM_014336.5",
      "ensemblProtein": "ENSP00000370521.3",
      "refseqProtein": "NP_055151.3",
      "exons": [
        {
          "start": 6423738,
          "end": 6425830
        },
        {
          "start": 6426615,
          "end": 6426756
        },
        {
          "start": 6426881,
          "end": 6427057
        },
        {
          "start": 6428318,
          "end": 6428506
        },
        {
          "start": 6433919,
          "end": 6434098
        },
        {
          "start": 6435009,
          "end": 6435121
        }
      ],
      "cds": {
        "start": 6425460,
        "end": 6435104
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 6297013,
      "end": 6338519,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 5929430,
      "end": 6929429,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000285471",
          "biotype": "protein_coding",
          "start": 5772926,
          "end": 6080792,
          "strand": "+"
        },
        {
          "symbol": "WSCD1",
          "ensemblId": "ENSG00000179314",
          "biotype": "protein_coding",
          "start": 6057807,
          "end": 6124427,
          "strand": "+",
          "slug": "wscd1"
        },
        {
          "symbol": "PIMREG",
          "ensemblId": "ENSG00000129195",
          "biotype": "protein_coding",
          "start": 6443544,
          "end": 6451469,
          "strand": "+",
          "slug": "pimreg"
        },
        {
          "symbol": "PITPNM3",
          "ensemblId": "ENSG00000091622",
          "biotype": "protein_coding",
          "start": 6451263,
          "end": 6556567,
          "strand": "-",
          "slug": "pitpnm3"
        },
        {
          "symbol": "KIAA0753",
          "ensemblId": "ENSG00000198920",
          "biotype": "protein_coding",
          "start": 6578031,
          "end": 6640741,
          "strand": "-",
          "slug": "kiaa0753"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000282936",
          "biotype": "protein_coding",
          "start": 6578031,
          "end": 6640711,
          "strand": "-"
        },
        {
          "symbol": "TXNDC17",
          "ensemblId": "ENSG00000129235",
          "biotype": "protein_coding",
          "start": 6640712,
          "end": 6646374,
          "strand": "+",
          "slug": "txndc17"
        },
        {
          "symbol": "MED31",
          "ensemblId": "ENSG00000108590",
          "biotype": "protein_coding",
          "start": 6643311,
          "end": 6652290,
          "strand": "-",
          "slug": "med31"
        },
        {
          "symbol": "C17orf100",
          "ensemblId": "ENSG00000256806",
          "biotype": "protein_coding",
          "start": 6651762,
          "end": 6693202,
          "strand": "+",
          "slug": "c17orf100"
        },
        {
          "symbol": "SLC13A5",
          "ensemblId": "ENSG00000141485",
          "biotype": "protein_coding",
          "start": 6684715,
          "end": 6713377,
          "strand": "-",
          "slug": "slc13a5"
        },
        {
          "symbol": "XAF1",
          "ensemblId": "ENSG00000132530",
          "biotype": "protein_coding",
          "start": 6755375,
          "end": 6775647,
          "strand": "+",
          "slug": "xaf1"
        },
        {
          "symbol": "FBXO39",
          "ensemblId": "ENSG00000177294",
          "biotype": "protein_coding",
          "start": 6776210,
          "end": 6797101,
          "strand": "+",
          "slug": "fbxo39"
        },
        {
          "symbol": "TEKT1",
          "ensemblId": "ENSG00000167858",
          "biotype": "protein_coding",
          "start": 6789133,
          "end": 6831761,
          "strand": "-",
          "slug": "tekt1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "leber-congenital-amaurosis",
        "name": "Leber Congenital Amaurosis & RPE65-Related Retinopathy",
        "diseases": [
          {
            "mondoId": "MONDO:0018998",
            "name": "Leber Congenital Amaurosis",
            "genes": 21,
            "inheritance": "autosomal-recessive",
            "description": "A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.",
            "management": "Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/leber-congenital-amaurosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "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-fundus-pigmentation",
        "name": "Abnormal fundus pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormal-fundus-pigmentation"
      },
      {
        "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-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": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "cone-cone-rod-dystrophy",
        "name": "Cone/cone-rod dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "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": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-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": "occasional",
        "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": "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": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "macular-atrophy",
        "name": "Macular atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/macular-atrophy"
      },
      {
        "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": "metamorphopsia",
        "name": "Metamorphopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metamorphopsia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "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": "frequent",
        "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": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "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-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "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": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "undetectable-light-and-dark-adapted-electroretinogram",
        "name": "Undetectable light- and dark-adapted electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/undetectable-light-and-dark-adapted-electroretinogram"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "cct2",
        "symbol": "CCT2",
        "name": "chaperonin containing TCP1 subunit 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cct2"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep290"
      },
      {
        "slug": "crb1",
        "symbol": "CRB1",
        "name": "crumbs cell polarity complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/crb1"
      },
      {
        "slug": "crx",
        "symbol": "CRX",
        "name": "cone-rod homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/crx"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "name": "guanylate cyclase 2D, retinal",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/gucy2d"
      },
      {
        "slug": "impdh1",
        "symbol": "IMPDH1",
        "name": "inosine monophosphate dehydrogenase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/impdh1"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/kcnj13"
      },
      {
        "slug": "lca5",
        "symbol": "LCA5",
        "name": "lebercilin LCA5",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lca5"
      },
      {
        "slug": "lrat",
        "symbol": "LRAT",
        "name": "lecithin retinol acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lrat"
      },
      {
        "slug": "nmnat1",
        "symbol": "NMNAT1",
        "name": "nicotinamide nucleotide adenylyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/nmnat1"
      },
      {
        "slug": "prph2",
        "symbol": "PRPH2",
        "name": "peripherin 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/prph2"
      },
      {
        "slug": "rd3",
        "symbol": "RD3",
        "name": "RD3 regulator of GUCY2D",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rd3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}