{
  "url": "https://dantelabs.com/hu/genes/wdr81",
  "gene": {
    "slug": "wdr81",
    "symbol": "WDR81",
    "name": "WD repeat domain 81",
    "hgnc": "HGNC:26600",
    "summary": null,
    "location": "17p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ33817",
      "PPP1R166",
      "CAMRQ2",
      "SORF-2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167716",
    "entrezId": 124997,
    "omim": [
      "614218"
    ],
    "uniprot": [
      "Q562E7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 1724704,
      "end": 1738585,
      "strand": "+",
      "ensemblTranscript": "ENST00000409644.6",
      "refseqTranscript": "NM_001163809.2",
      "ensemblProtein": "ENSP00000386609.1",
      "refseqProtein": "NP_001157281.1",
      "exons": [
        {
          "start": 1724704,
          "end": 1728626
        },
        {
          "start": 1730380,
          "end": 1730487
        },
        {
          "start": 1730755,
          "end": 1730945
        },
        {
          "start": 1731068,
          "end": 1731258
        },
        {
          "start": 1732325,
          "end": 1732490
        },
        {
          "start": 1732666,
          "end": 1732831
        },
        {
          "start": 1733527,
          "end": 1734216
        },
        {
          "start": 1735572,
          "end": 1735717
        },
        {
          "start": 1736039,
          "end": 1736218
        },
        {
          "start": 1737365,
          "end": 1738585
        }
      ],
      "cds": {
        "start": 1724960,
        "end": 1737685
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 1619817,
      "end": 1641893,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 1231645,
      "end": 2231644,
      "genes": [
        {
          "symbol": "BHLHA9",
          "ensemblId": "ENSG00000205899",
          "biotype": "protein_coding",
          "start": 1270444,
          "end": 1271815,
          "strand": "+",
          "slug": "bhlha9"
        },
        {
          "symbol": "TRARG1",
          "ensemblId": "ENSG00000184811",
          "biotype": "protein_coding",
          "start": 1279554,
          "end": 1300978,
          "strand": "+",
          "slug": "trarg1"
        },
        {
          "symbol": "YWHAE",
          "ensemblId": "ENSG00000108953",
          "biotype": "protein_coding",
          "start": 1344275,
          "end": 1400326,
          "strand": "-",
          "slug": "ywhae"
        },
        {
          "symbol": "CRK",
          "ensemblId": "ENSG00000167193",
          "biotype": "protein_coding",
          "start": 1420689,
          "end": 1463162,
          "strand": "-",
          "slug": "crk"
        },
        {
          "symbol": "MYO1C",
          "ensemblId": "ENSG00000197879",
          "biotype": "protein_coding",
          "start": 1464186,
          "end": 1492707,
          "strand": "-",
          "slug": "myo1c"
        },
        {
          "symbol": "INPP5K",
          "ensemblId": "ENSG00000132376",
          "biotype": "protein_coding",
          "start": 1494571,
          "end": 1516759,
          "strand": "-",
          "slug": "inpp5k"
        },
        {
          "symbol": "PITPNA",
          "ensemblId": "ENSG00000174238",
          "biotype": "protein_coding",
          "start": 1517718,
          "end": 1562861,
          "strand": "-",
          "slug": "pitpna"
        },
        {
          "symbol": "SLC43A2",
          "ensemblId": "ENSG00000167703",
          "biotype": "protein_coding",
          "start": 1569268,
          "end": 1630103,
          "strand": "-",
          "slug": "slc43a2"
        },
        {
          "symbol": "SCARF1",
          "ensemblId": "ENSG00000074660",
          "biotype": "protein_coding",
          "start": 1633848,
          "end": 1646122,
          "strand": "-",
          "slug": "scarf1"
        },
        {
          "symbol": "RILP",
          "ensemblId": "ENSG00000167705",
          "biotype": "protein_coding",
          "start": 1646138,
          "end": 1650083,
          "strand": "-",
          "slug": "rilp"
        },
        {
          "symbol": "PRPF8",
          "ensemblId": "ENSG00000174231",
          "biotype": "protein_coding",
          "start": 1650624,
          "end": 1684909,
          "strand": "-",
          "slug": "prpf8"
        },
        {
          "symbol": "TLCD2",
          "ensemblId": "ENSG00000185561",
          "biotype": "protein_coding",
          "start": 1688598,
          "end": 1710639,
          "strand": "-",
          "slug": "tlcd2"
        },
        {
          "symbol": "SERPINF2",
          "ensemblId": "ENSG00000167711",
          "biotype": "protein_coding",
          "start": 1742069,
          "end": 1755271,
          "strand": "+",
          "slug": "serpinf2"
        },
        {
          "symbol": "SERPINF1",
          "ensemblId": "ENSG00000132386",
          "biotype": "protein_coding",
          "start": 1761958,
          "end": 1777627,
          "strand": "+",
          "slug": "serpinf1"
        },
        {
          "symbol": "SMYD4",
          "ensemblId": "ENSG00000186532",
          "biotype": "protein_coding",
          "start": 1779485,
          "end": 1830634,
          "strand": "-",
          "slug": "smyd4"
        },
        {
          "symbol": "RPA1",
          "ensemblId": "ENSG00000132383",
          "biotype": "protein_coding",
          "start": 1829702,
          "end": 1900082,
          "strand": "+",
          "slug": "rpa1"
        },
        {
          "symbol": "RTN4RL1",
          "ensemblId": "ENSG00000185924",
          "biotype": "protein_coding",
          "start": 1934677,
          "end": 2025355,
          "strand": "-",
          "slug": "rtn4rl1"
        },
        {
          "symbol": "DPH1",
          "ensemblId": "ENSG00000108963",
          "biotype": "protein_coding",
          "start": 2030136,
          "end": 2043898,
          "strand": "+",
          "slug": "dph1"
        },
        {
          "symbol": "OVCA2",
          "ensemblId": "ENSG00000262664",
          "biotype": "protein_coding",
          "start": 2042022,
          "end": 2043898,
          "strand": "+",
          "slug": "ovca2"
        },
        {
          "symbol": "HIC1",
          "ensemblId": "ENSG00000177374",
          "biotype": "protein_coding",
          "start": 2054154,
          "end": 2063241,
          "strand": "+",
          "slug": "hic1"
        },
        {
          "symbol": "SMG6",
          "ensemblId": "ENSG00000070366",
          "biotype": "protein_coding",
          "start": 2059839,
          "end": 2303934,
          "strand": "-",
          "slug": "smg6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-recessive-cerebellar-ataxias",
        "name": "Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)",
        "diseases": [
          {
            "mondoId": "MONDO:0015244",
            "name": "Autosomal Recessive Cerebellar Ataxia",
            "genes": 57,
            "inheritance": "autosomal-recessive",
            "description": "A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.",
            "management": "Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/autosomal-recessive-cerebellar-ataxias"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Inherited Neurodegenerative Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "KIF5A-Related Neurodegenerative Disorder",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Caused by changes in one copy of KIF5A, which encodes a motor protein with a cargo-binding tail. Different types of change lead to different conditions: hereditary spastic paraplegia type 10, an axonal form of Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).",
            "management": "Care is symptomatic and depends on the presentation, including physiotherapy, antispasticity medicines and multidisciplinary ALS care. Each child of an affected person has a 1 in 2 chance of inheriting the change; genetic counselling helps families understand this.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/inherited-neurodegenerative-disorders-selected-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormality-of-the-neck",
        "name": "Abnormality of the neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-the-neck"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "aplasia-of-the-inferior-half-of-the-cerebellar-vermis",
        "name": "Aplasia of the inferior half of the cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aplasia-of-the-inferior-half-of-the-cerebellar-vermis"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atrophy-of-the-dentate-nucleus",
        "name": "Atrophy of the dentate nucleus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/atrophy-of-the-dentate-nucleus"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "cerebellar-agenesis",
        "name": "Cerebellar agenesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-agenesis"
      },
      {
        "slug": "cerebral-palsy",
        "name": "Cerebral palsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-palsy"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "hydranencephaly",
        "name": "Hydranencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydranencephaly"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "truncal-ataxia",
        "name": "Instability or lack of coordination of central trunk muscles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/truncal-ataxia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "redundant-neck-skin",
        "name": "Redundant neck skin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/redundant-neck-skin"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "short-palm",
        "name": "Short palm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-palm"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "small-hand",
        "name": "Small hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-hand"
      },
      {
        "slug": "thoracic-kyphosis",
        "name": "Thoracic kyphosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thoracic-kyphosis"
      },
      {
        "slug": "thoracic-scoliosis",
        "name": "Thoracic scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thoracic-scoliosis"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "broad-based-gait",
        "name": "Wide based walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-based-gait"
      }
    ],
    "related": [
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ahi1"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ano10"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atg7"
      },
      {
        "slug": "atp8a2",
        "symbol": "ATP8A2",
        "name": "ATPase phospholipid transporting 8A2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/atp8a2"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/ca8"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cep41"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/coa7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/coq8a"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "name": "centrosome and spindle pole associated protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cspp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}