{
  "url": "https://dantelabs.com/fr/genes/crb2",
  "gene": {
    "slug": "crb2",
    "symbol": "CRB2",
    "name": "crumbs cell polarity complex component 2",
    "hgnc": "HGNC:18688",
    "summary": null,
    "location": "9q33.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ38464",
      "FLJ16786"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000148204",
    "entrezId": 286204,
    "omim": [
      "609720"
    ],
    "uniprot": [
      "Q5IJ48"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 123356197,
      "end": 123378753,
      "strand": "+",
      "ensemblTranscript": "ENST00000373631.8",
      "refseqTranscript": "NM_173689.7",
      "ensemblProtein": "ENSP00000362734.3",
      "refseqProtein": "NP_775960.4",
      "exons": [
        {
          "start": 123356197,
          "end": 123356354
        },
        {
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        },
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        },
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        },
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        },
        {
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          "end": 123378753
        }
      ],
      "cds": {
        "start": 123356261,
        "end": 123377062
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 126118449,
      "end": 126142603,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 122867475,
      "end": 123867474,
      "genes": [
        {
          "symbol": "RC3H2",
          "ensemblId": "ENSG00000056586",
          "biotype": "protein_coding",
          "start": 122844556,
          "end": 122905513,
          "strand": "-",
          "slug": "rc3h2"
        },
        {
          "symbol": "ZBTB6",
          "ensemblId": "ENSG00000186130",
          "biotype": "protein_coding",
          "start": 122908053,
          "end": 122913333,
          "strand": "-",
          "slug": "zbtb6"
        },
        {
          "symbol": "ZBTB26",
          "ensemblId": "ENSG00000171448",
          "biotype": "protein_coding",
          "start": 122915548,
          "end": 122931565,
          "strand": "-",
          "slug": "zbtb26"
        },
        {
          "symbol": "RABGAP1",
          "ensemblId": "ENSG00000011454",
          "biotype": "protein_coding",
          "start": 122940833,
          "end": 123163067,
          "strand": "+",
          "slug": "rabgap1"
        },
        {
          "symbol": "GPR21",
          "ensemblId": "ENSG00000188394",
          "biotype": "protein_coding",
          "start": 123033650,
          "end": 123038690,
          "strand": "+",
          "slug": "gpr21"
        },
        {
          "symbol": "STRBP",
          "ensemblId": "ENSG00000165209",
          "biotype": "protein_coding",
          "start": 123109494,
          "end": 123269102,
          "strand": "-",
          "slug": "strbp"
        },
        {
          "symbol": "DENND1A",
          "ensemblId": "ENSG00000119522",
          "biotype": "protein_coding",
          "start": 123379648,
          "end": 123930154,
          "strand": "-",
          "slug": "dennd1a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Glomérulosclérose segmentaire et focale",
        "diseases": [
          {
            "mondoId": "MONDO:0100313",
            "name": "Glomérulosclérose segmentaire et focale",
            "genes": 8,
            "inheritance": null,
            "description": "Trouble rénal caractérisé par des lésions scléreuses au niveau des glomérules. Ses causes comprennent la prise de médicaments, des infections virales et des affections malignes (lymphomes), mais elle peut également être idiopathique. Elle se manifeste par une protéinurie asymptomatique ou un syndrome néphrétique et peut évoluer vers une insuffisance rénale.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "glomerulosclerosis",
        "name": "Glomérulosclérose",
        "diseases": [
          {
            "mondoId": "MONDO:0000490",
            "name": "Glomérulosclérose",
            "genes": 8,
            "inheritance": null,
            "description": "Un durcissement des glomérules rénaux causé par la cicatrisation des vaisseaux sanguins.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/glomerulosclerosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "diffuse-mesangial-sclerosis",
        "name": "Diffuse mesangial sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fetal-pericardial-effusion",
        "name": "Fetal pericardial effusion",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fetal-pericardial-effusion"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "foamy-urine",
        "name": "Foamy urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foamy-urine"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "minimal-change-glomerulonephritis",
        "name": "Minimal change glomerulonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis"
      },
      {
        "slug": "periorbital-edema",
        "name": "Periorbital edema",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periorbital-edema"
      },
      {
        "slug": "peritonitis",
        "name": "Peritonitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/peritonitis"
      },
      {
        "slug": "postaxial-polydactyly",
        "name": "Postaxial polydactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/postaxial-polydactyly"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "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": "steroid-resistant-nephrotic-syndrome",
        "name": "Steroid-resistant nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/steroid-resistant-nephrotic-syndrome"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "tubular-luminal-dilatation",
        "name": "Tubular luminal dilatation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tubular-luminal-dilatation"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [
      {
        "slug": "actn4",
        "symbol": "ACTN4",
        "name": "actinin alpha 4",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/actn4"
      },
      {
        "slug": "anln",
        "symbol": "ANLN",
        "name": "anillin, actin binding protein",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/anln"
      },
      {
        "slug": "fat1",
        "symbol": "FAT1",
        "name": "FAT atypical cadherin 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fat1"
      },
      {
        "slug": "inf2",
        "symbol": "INF2",
        "name": "inverted formin 2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/inf2"
      },
      {
        "slug": "myo1e",
        "symbol": "MYO1E",
        "name": "myosin IE",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/myo1e"
      },
      {
        "slug": "pax2",
        "symbol": "PAX2",
        "name": "paired box 2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/pax2"
      },
      {
        "slug": "trpc6",
        "symbol": "TRPC6",
        "name": "transient receptor potential cation channel subfamily C member 6",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/trpc6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}