{
  "url": "https://dantelabs.com/et/genes/greb1l",
  "gene": {
    "slug": "greb1l",
    "symbol": "GREB1L",
    "name": "GREB1 like retinoic acid receptor coactivator",
    "hgnc": "HGNC:31042",
    "summary": null,
    "location": "18q11.1-q11.2",
    "locusType": "gene with protein product",
    "aliases": [
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    "previousSymbols": [
      "KIAA1772"
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    "ensemblId": "ENSG00000141449",
    "entrezId": 80000,
    "omim": [
      "617782"
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    "uniprot": [
      "Q9C091"
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      "release": "v1.5",
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      "strand": "+",
      "ensemblTranscript": "ENST00000424526.7",
      "refseqTranscript": "NM_001142966.3",
      "ensemblProtein": "ENSP00000412060.1",
      "refseqProtein": "NP_001136438.1",
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      ],
      "cds": {
        "start": 21383519,
        "end": 21522821
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 18822203,
      "end": 19105378,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 20884172,
      "end": 21884171,
      "genes": [
        {
          "symbol": "ROCK1",
          "ensemblId": "ENSG00000067900",
          "biotype": "protein_coding",
          "start": 20944612,
          "end": 21111882,
          "strand": "-",
          "slug": "rock1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000293575",
          "biotype": "protein_coding",
          "start": 21111059,
          "end": 21111139,
          "strand": "-"
        },
        {
          "symbol": "ESCO1",
          "ensemblId": "ENSG00000141446",
          "biotype": "protein_coding",
          "start": 21529041,
          "end": 21600966,
          "strand": "-",
          "slug": "esco1"
        },
        {
          "symbol": "SNRPD1",
          "ensemblId": "ENSG00000167088",
          "biotype": "protein_coding",
          "start": 21612266,
          "end": 21633524,
          "strand": "+",
          "slug": "snrpd1"
        },
        {
          "symbol": "ABHD3",
          "ensemblId": "ENSG00000158201",
          "biotype": "protein_coding",
          "start": 21650895,
          "end": 21704878,
          "strand": "-",
          "slug": "abhd3"
        },
        {
          "symbol": "MIB1",
          "ensemblId": "ENSG00000101752",
          "biotype": "protein_coding",
          "start": 21704957,
          "end": 21870953,
          "strand": "+",
          "slug": "mib1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-anomalies-kidney-urinary-tract",
        "name": "Kongenitaalsed neerude ja kuseteede väärarengud",
        "diseases": [
          {
            "mondoId": "MONDO:0024520",
            "name": "Neeru hüpodüsplaasia/aplaasia 3",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Väikesed, väärarenenud või puuduvad neerud, mis on seotud GREB1L variantidega, muutuva penetrantsusega.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/congenital-anomalies-kidney-urinary-tract"
      },
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Kuulmislangus ja kurtus",
        "diseases": [
          {
            "mondoId": "MONDO:0019587",
            "name": "Autosomaal-dominantne mittesündroomiline kuulmislangus",
            "genes": 39,
            "inheritance": "autosomal-dominant",
            "description": "Mittesündroomilise kurtuse autosomaal-dominantne vorm.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Mittesündroomiline pärilik kuulmislangus",
            "genes": 97,
            "inheritance": null,
            "description": "Pärilik kuulmislangus ilma muude meditsiiniliste tunnusteta, sh levinud retsessiivsed vormid, mis on põhjustatud geenidest GJB2, OTOF, SLC26A4, STRC ja paljudest teistest geenidest, samuti dominantsed, X-seotud ja mitokondriaalsed vormid.",
            "management": "Geneetilise põhjuse teadmine võib aidata otsustada kuulmistoe ja koklea-implantaadi kasutuse üle, hinnata sobivust geeniteraapia uuringutesse (näiteks OTOF) ning toetada perekonna nõustamist.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/et/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "tracheoesophageal-fistula",
        "name": "Abnormal connection between trachea and esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tracheoesophageal-fistula"
      },
      {
        "slug": "abnormal-morphology-of-female-internal-genitalia",
        "name": "Abnormal morphology of female internal genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia"
      },
      {
        "slug": "abnormal-sacrum-morphology",
        "name": "Abnormal sacrum morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-sacrum-morphology"
      },
      {
        "slug": "abnormal-semicircular-canal-morphology",
        "name": "Abnormal semicircular canal morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-semicircular-canal-morphology"
      },
      {
        "slug": "abnormal-intestine-morphology",
        "name": "Abnormality of the intestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-intestine-morphology"
      },
      {
        "slug": "abnormality-of-the-uterus",
        "name": "Abnormality of the uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-uterus"
      },
      {
        "slug": "renal-agenesis",
        "name": "Absent kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-agenesis"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cochlear-aplasia",
        "name": "Cochlear aplasia",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cochlear-aplasia"
      },
      {
        "slug": "cochlear-nerve-aplasia",
        "name": "Cochlear nerve aplasia",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/cochlear-nerve-aplasia"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment"
      },
      {
        "slug": "dilated-vestibule-of-the-inner-ear",
        "name": "Dilated vestibule of the inner ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dilated-vestibule-of-the-inner-ear"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "fetal-polyuria",
        "name": "Fetal polyuria",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fetal-polyuria"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "horseshoe-kidney",
        "name": "Horseshoe kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/horseshoe-kidney"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "non-midline-cleft-of-the-upper-lip",
        "name": "Non-midline cleft of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/non-midline-cleft-of-the-upper-lip"
      },
      {
        "slug": "nonketotic-hypoglycemia",
        "name": "Nonketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nonketotic-hypoglycemia"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "sirenomelia",
        "name": "Sirenomelia",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sirenomelia"
      },
      {
        "slug": "urogenital-fistula",
        "name": "Urogenital fistula",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urogenital-fistula"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/actg1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/atp2b2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/cd164"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/ceacam16"
      },
      {
        "slug": "coch",
        "symbol": "COCH",
        "name": "cochlin",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/coch"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "name": "collagen type XI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/col11a2"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "name": "diaphanous related formin 1",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/diaph1"
      },
      {
        "slug": "eya4",
        "symbol": "EYA4",
        "name": "EYA transcriptional coactivator and phosphatase 4",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/eya4"
      },
      {
        "slug": "gjb2",
        "symbol": "GJB2",
        "name": "gap junction protein beta 2",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/gjb2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "name": "gap junction protein beta 6",
        "shared": 2,
        "url": "https://dantelabs.com/et/genes/gjb6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}