{
  "url": "https://dantelabs.com/no/genes/gfra1",
  "gene": {
    "slug": "gfra1",
    "symbol": "GFRA1",
    "name": "GDNF family receptor alpha 1",
    "hgnc": "HGNC:4243",
    "summary": null,
    "location": "10q25.3",
    "locusType": "gene with protein product",
    "aliases": [
      "RETL1",
      "GDNFR",
      "GFR-ALPHA-1",
      "RET1L",
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    ],
    "previousSymbols": [
      "GDNFRA"
    ],
    "ensemblId": "ENSG00000151892",
    "entrezId": 2674,
    "omim": [
      "601496"
    ],
    "uniprot": [
      "P56159"
    ],
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      "release": "v1.5",
      "chrom": "10",
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      "end": 116273206,
      "strand": "-",
      "ensemblTranscript": "ENST00000355422.11",
      "refseqTranscript": "NM_005264.8",
      "ensemblProtein": "ENSP00000347591.6",
      "refseqProtein": "NP_005255.1",
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      ],
      "cds": {
        "start": 116064398,
        "end": 116272029
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "10",
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      "end": 118032979,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 115665066,
      "end": 116665065,
      "genes": [
        {
          "symbol": "ATRNL1",
          "ensemblId": "ENSG00000107518",
          "biotype": "protein_coding",
          "start": 115092844,
          "end": 115948999,
          "strand": "+",
          "slug": "atrnl1"
        },
        {
          "symbol": "CCDC172",
          "ensemblId": "ENSG00000182645",
          "biotype": "protein_coding",
          "start": 116324388,
          "end": 116380029,
          "strand": "+",
          "slug": "ccdc172"
        },
        {
          "symbol": "PNLIPRP3",
          "ensemblId": "ENSG00000203837",
          "biotype": "protein_coding",
          "start": 116427847,
          "end": 116477964,
          "strand": "+",
          "slug": "pnliprp3"
        },
        {
          "symbol": "PNLIP",
          "ensemblId": "ENSG00000175535",
          "biotype": "protein_coding",
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          "end": 116567855,
          "strand": "+",
          "slug": "pnlip"
        },
        {
          "symbol": "PNLIPRP1",
          "ensemblId": "ENSG00000187021",
          "biotype": "protein_coding",
          "start": 116590385,
          "end": 116609175,
          "strand": "+",
          "slug": "pnliprp1"
        },
        {
          "symbol": "PNLIPRP2",
          "ensemblId": "ENSG00000266200",
          "biotype": "protein_coding",
          "start": 116620953,
          "end": 116645143,
          "strand": "+",
          "slug": "pnliprp2"
        },
        {
          "symbol": "SPMIP5",
          "ensemblId": "ENSG00000165863",
          "biotype": "protein_coding",
          "start": 116662208,
          "end": 116670312,
          "strand": "-",
          "slug": "spmip5"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-anomalies-kidney-urinary-tract",
        "name": "Medfødte misdannelser i nyre og urinveier",
        "diseases": [
          {
            "mondoId": "MONDO:0030822",
            "name": "Renal hypodysplasi/aplasi 4",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Små, misdannede eller manglende nyrer knyttet til varianter i GFRA1.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/congenital-anomalies-kidney-urinary-tract"
      }
    ],
    "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-intestine-morphology",
        "name": "Abnormality of the intestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-intestine-morphology"
      },
      {
        "slug": "renal-agenesis",
        "name": "Absent kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-agenesis"
      },
      {
        "slug": "anhydramnios",
        "name": "Anhydramnios",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anhydramnios"
      },
      {
        "slug": "bilateral-renal-agenesis",
        "name": "Bilateral renal agenesis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-renal-agenesis"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "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": "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": "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": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "potter-facies",
        "name": "Potter facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/potter-facies"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "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": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}