{
  "url": "https://dantelabs.com/hu/genes/il11ra",
  "gene": {
    "slug": "il11ra",
    "symbol": "IL11RA",
    "name": "interleukin 11 receptor subunit alpha",
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    "location": "9p13.3",
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    "aliases": [],
    "previousSymbols": [],
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      "600939"
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      "Q14626"
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    },
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      "build": "GRCh37",
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      "strand": "+"
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    "neighbourhood": {
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      "genes": [
        {
          "symbol": "UBAP1",
          "ensemblId": "ENSG00000165006",
          "biotype": "protein_coding",
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          "end": 34252523,
          "strand": "+",
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        {
          "symbol": "KIF24",
          "ensemblId": "ENSG00000186638",
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        {
          "symbol": "NUDT2",
          "ensemblId": "ENSG00000164978",
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        {
          "symbol": "MYORG",
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        {
          "symbol": "SPMIP6",
          "ensemblId": "ENSG00000164972",
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          "strand": "-",
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        {
          "symbol": "FAM219A",
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          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "fam219a"
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        {
          "symbol": "DNAI1",
          "ensemblId": "ENSG00000122735",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "dnai1"
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        {
          "symbol": "ENHO",
          "ensemblId": "ENSG00000168913",
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        {
          "symbol": "CNTFR",
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          "strand": "-",
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        {
          "symbol": "RPP25L",
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        },
        {
          "symbol": "DCTN3",
          "ensemblId": "ENSG00000137100",
          "biotype": "protein_coding",
          "start": 34613545,
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          "strand": "-",
          "slug": "dctn3"
        },
        {
          "symbol": "ARID3C",
          "ensemblId": "ENSG00000205143",
          "biotype": "protein_coding",
          "start": 34621049,
          "end": 34630503,
          "strand": "-",
          "slug": "arid3c"
        },
        {
          "symbol": "SIGMAR1",
          "ensemblId": "ENSG00000147955",
          "biotype": "protein_coding",
          "start": 34631716,
          "end": 34637844,
          "strand": "-",
          "slug": "sigmar1"
        },
        {
          "symbol": "GALT",
          "ensemblId": "ENSG00000213930",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "galt"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000258728",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "CCL27",
          "ensemblId": "ENSG00000213927",
          "biotype": "protein_coding",
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          "strand": "-",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000187186",
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        {
          "symbol": "CCL19",
          "ensemblId": "ENSG00000172724",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ccl19"
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        {
          "symbol": "CCL21",
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          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "SPATA31F1",
          "ensemblId": "ENSG00000205108",
          "biotype": "protein_coding",
          "start": 34719196,
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          "strand": "-",
          "slug": "spata31f1"
        },
        {
          "symbol": "SPATA31F3",
          "ensemblId": "ENSG00000187791",
          "biotype": "protein_coding",
          "start": 34889062,
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          "strand": "-",
          "slug": "spata31f3"
        },
        {
          "symbol": "PHF24",
          "ensemblId": "ENSG00000122733",
          "biotype": "protein_coding",
          "start": 34957608,
          "end": 34982544,
          "strand": "+",
          "slug": "phf24"
        },
        {
          "symbol": "DNAJB5",
          "ensemblId": "ENSG00000137094",
          "biotype": "protein_coding",
          "start": 34989641,
          "end": 34999403,
          "strand": "+",
          "slug": "dnajb5"
        },
        {
          "symbol": "SPATA31G1",
          "ensemblId": "ENSG00000174038",
          "biotype": "protein_coding",
          "start": 35041095,
          "end": 35045986,
          "strand": "+",
          "slug": "spata31g1"
        },
        {
          "symbol": "VCP",
          "ensemblId": "ENSG00000165280",
          "biotype": "protein_coding",
          "start": 35053928,
          "end": 35072725,
          "strand": "-",
          "slug": "vcp"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288699",
          "biotype": "protein_coding",
          "start": 35065339,
          "end": 35074175,
          "strand": "-"
        },
        {
          "symbol": "FANCG",
          "ensemblId": "ENSG00000221829",
          "biotype": "protein_coding",
          "start": 35073793,
          "end": 35082444,
          "strand": "-",
          "slug": "fancg"
        },
        {
          "symbol": "PIGO",
          "ensemblId": "ENSG00000165282",
          "biotype": "protein_coding",
          "start": 35085492,
          "end": 35096632,
          "strand": "-",
          "slug": "pigo"
        },
        {
          "symbol": "STOML2",
          "ensemblId": "ENSG00000165283",
          "biotype": "protein_coding",
          "start": 35099469,
          "end": 35103195,
          "strand": "-",
          "slug": "stoml2"
        },
        {
          "symbol": "ATOSB",
          "ensemblId": "ENSG00000005238",
          "biotype": "protein_coding",
          "start": 35104112,
          "end": 35116357,
          "strand": "-",
          "slug": "atosb"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "syndromic-craniosynostosis",
        "name": "Syndromic Craniosynostosis",
        "diseases": [
          {
            "mondoId": "MONDO:0015338",
            "name": "Syndromic craniosynostosis",
            "genes": 23,
            "inheritance": null,
            "description": "Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.",
            "management": "Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/syndromic-craniosynostosis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "fingernail-dysplasia",
        "name": "Abnormal fingernail development",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fingernail-dysplasia"
      },
      {
        "slug": "absent-malleus",
        "name": "Absent malleus",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-malleus"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "broad-hallux",
        "name": "Broad big toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/broad-hallux"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "hallux-valgus",
        "name": "Bunion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hallux-valgus"
      },
      {
        "slug": "chiari-malformation",
        "name": "Chiari malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chiari-malformation"
      },
      {
        "slug": "chronic-otitis-media",
        "name": "Chronic infections of the middle ear",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-otitis-media"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "coronal-craniosynostosis",
        "name": "Coronal craniosynostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coronal-craniosynostosis"
      },
      {
        "slug": "craniofacial-dysostosis",
        "name": "Craniofacial dysostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/craniofacial-dysostosis"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "dental-crowding",
        "name": "Dental crowding",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dental-crowding"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "sagittal-craniosynostosis",
        "name": "Early closure of midline skull joint",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sagittal-craniosynostosis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "supernumerary-tooth",
        "name": "Extra teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/supernumerary-tooth"
      },
      {
        "slug": "flat-occiput",
        "name": "Flat back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flat-occiput"
      },
      {
        "slug": "flat-forehead",
        "name": "Flat forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flat-forehead"
      },
      {
        "slug": "syringomyelia",
        "name": "Fluid-filled cyst in spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syringomyelia"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "lambdoidal-craniosynostosis",
        "name": "Lambdoidal craniosynostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lambdoidal-craniosynostosis"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "metopic-synostosis",
        "name": "Metopic synostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metopic-synostosis"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "narrow-palate",
        "name": "Narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-palate"
      },
      {
        "slug": "oxycephaly",
        "name": "Oxycephaly",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oxycephaly"
      },
      {
        "slug": "papilledema",
        "name": "Papilledema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/papilledema"
      },
      {
        "slug": "prominent-metopic-ridge",
        "name": "Prominent metopic ridge",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-metopic-ridge"
      },
      {
        "slug": "scaphocephaly",
        "name": "Scaphocephaly",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scaphocephaly"
      },
      {
        "slug": "short-phalanx-of-finger",
        "name": "Short finger bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-phalanx-of-finger"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "stapes-ankylosis",
        "name": "Stapes ankylosis",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stapes-ankylosis"
      },
      {
        "slug": "turricephaly",
        "name": "Tall shaped head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/turricephaly"
      },
      {
        "slug": "trigonocephaly",
        "name": "Triangular head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/trigonocephaly"
      },
      {
        "slug": "2-3-toe-syndactyly",
        "name": "Webbed 2nd and 3rd toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/2-3-toe-syndactyly"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nose"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "cyp26b1",
        "symbol": "CYP26B1",
        "name": "cytochrome P450 family 26 subfamily B member 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cyp26b1"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/erf"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "name": "fibroblast growth factor receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fgfr1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "name": "fibroblast growth factor receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fgfr2"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "name": "fibroblast growth factor receptor 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/fgfr3"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "name": "intraflagellar transport 122",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ift122"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "name": "intraflagellar transport 43",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ift43"
      },
      {
        "slug": "ift52",
        "symbol": "IFT52",
        "name": "intraflagellar transport 52",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ift52"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "name": "lysine acetyltransferase 6A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/kat6a"
      },
      {
        "slug": "megf8",
        "symbol": "MEGF8",
        "name": "multiple EGF like domains 8",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/megf8"
      },
      {
        "slug": "msx2",
        "symbol": "MSX2",
        "name": "msh homeobox 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/msx2"
      },
      {
        "slug": "por",
        "symbol": "POR",
        "name": "cytochrome p450 oxidoreductase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/por"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}