{
  "url": "https://dantelabs.com/hu/genes/sacs",
  "gene": {
    "slug": "sacs",
    "symbol": "SACS",
    "name": "sacsin molecular chaperone",
    "hgnc": "HGNC:10519",
    "summary": null,
    "location": "13q12.12",
    "locusType": "gene with protein product",
    "aliases": [
      "ARSACS",
      "KIAA0730",
      "DKFZp686B15167",
      "DNAJC29",
      "SPAX6",
      "PPP1R138"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000151835",
    "entrezId": 26278,
    "omim": [
      "604490"
    ],
    "uniprot": [
      "Q9NZJ4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 23328830,
      "end": 23433702,
      "strand": "-",
      "ensemblTranscript": "ENST00000382292.9",
      "refseqTranscript": "NM_014363.6",
      "ensemblProtein": "ENSP00000371729.3",
      "refseqProtein": "NP_055178.3",
      "exons": [
        {
          "start": 23328830,
          "end": 23341690
        },
        {
          "start": 23353785,
          "end": 23353876
        },
        {
          "start": 23354519,
          "end": 23356007
        },
        {
          "start": 23358335,
          "end": 23358481
        },
        {
          "start": 23365166,
          "end": 23365277
        },
        {
          "start": 23368402,
          "end": 23368487
        },
        {
          "start": 23371078,
          "end": 23371165
        },
        {
          "start": 23375119,
          "end": 23375269
        },
        {
          "start": 23411220,
          "end": 23411740
        },
        {
          "start": 23433615,
          "end": 23433702
        }
      ],
      "cds": {
        "start": 23330136,
        "end": 23411239
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 23902965,
      "end": 24007841,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 22881266,
      "end": 23881265,
      "genes": [
        {
          "symbol": "SGCG",
          "ensemblId": "ENSG00000102683",
          "biotype": "protein_coding",
          "start": 23160011,
          "end": 23325958,
          "strand": "+",
          "slug": "sgcg"
        },
        {
          "symbol": "TNFRSF19",
          "ensemblId": "ENSG00000127863",
          "biotype": "protein_coding",
          "start": 23570194,
          "end": 23676105,
          "strand": "+",
          "slug": "tnfrsf19"
        },
        {
          "symbol": "MIPEP",
          "ensemblId": "ENSG00000027001",
          "biotype": "protein_coding",
          "start": 23730000,
          "end": 23889448,
          "strand": "-",
          "slug": "mipep"
        }
      ],
      "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": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/autosomal-recessive-cerebellar-ataxias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebellar-peduncle-morphology",
        "name": "Abnormal cerebellar peduncle morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellar-peduncle-morphology"
      },
      {
        "slug": "abnormal-foot-morphology",
        "name": "Abnormal feet structure",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-foot-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-motor-evoked-potentials",
        "name": "Abnormal motor evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-motor-evoked-potentials"
      },
      {
        "slug": "abnormal-pons-morphology",
        "name": "Abnormal pons morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pons-morphology"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "hyperactive-patellar-reflex",
        "name": "Brisk knee jerk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperactive-patellar-reflex"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "decreased-number-of-large-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of large peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-number-of-large-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "decreased-sensory-nerve-conduction-velocity",
        "name": "Decreased sensory nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-sensory-nerve-conduction-velocity"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "impotence",
        "name": "Difficulty getting a full erection",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/impotence"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "scanning-speech",
        "name": "Explosive speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/scanning-speech"
      },
      {
        "slug": "falls",
        "name": "Falls",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/falls"
      },
      {
        "slug": "arachnoid-cyst",
        "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arachnoid-cyst"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "gaze-evoked-horizontal-nystagmus",
        "name": "Gaze-evoked horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gaze-evoked-horizontal-nystagmus"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hypermyelinated-retinal-nerve-fibers",
        "name": "Hypermyelinated retinal nerve fibers",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermyelinated-retinal-nerve-fibers"
      },
      {
        "slug": "impaired-smooth-pursuit",
        "name": "Impaired smooth pursuit",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/impaired-smooth-pursuit"
      },
      {
        "slug": "impaired-tactile-sensation",
        "name": "Impaired touch sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-tactile-sensation"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "loss-of-purkinje-cells-in-the-cerebellar-vermis",
        "name": "Loss of Purkinje cells in the cerebellar vermis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-purkinje-cells-in-the-cerebellar-vermis"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "mitral-valve-prolapse",
        "name": "Mitral valve prolapse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mitral-valve-prolapse"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "onion-bulb-formation",
        "name": "Onion bulb formation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/onion-bulb-formation"
      },
      {
        "slug": "parietal-cortical-atrophy",
        "name": "Parietal cortical atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/parietal-cortical-atrophy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "peroneal-muscle-atrophy",
        "name": "Peroneal muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peroneal-muscle-atrophy"
      },
      {
        "slug": "pontine-t2-hypointensity",
        "name": "Pontine T2 hypointensity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pontine-t2-hypointensity"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-cerebellar-ataxia",
        "name": "Progressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia"
      },
      {
        "slug": "progressive-gait-ataxia",
        "name": "Progressive gait ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-gait-ataxia"
      },
      {
        "slug": "progressive-truncal-ataxia",
        "name": "Progressive truncal ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-truncal-ataxia"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "spastic-ataxia",
        "name": "Spastic ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-ataxia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "swan-neck-like-deformities-of-the-fingers",
        "name": "Swan neck-like deformities of the fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/swan-neck-like-deformities-of-the-fingers"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "upper-motor-neuron-dysfunction",
        "name": "Upper motor neuron dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/upper-motor-neuron-dysfunction"
      },
      {
        "slug": "urinary-urgency",
        "name": "Urinary urgency",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-urgency"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "name": "Abelson helper integration site 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ahi1"
      },
      {
        "slug": "ano10",
        "symbol": "ANO10",
        "name": "anoctamin 10",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ano10"
      },
      {
        "slug": "atcay",
        "symbol": "ATCAY",
        "name": "ATCAY kinesin light chain interacting caytaxin",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atcay"
      },
      {
        "slug": "atg7",
        "symbol": "ATG7",
        "name": "autophagy related 7",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atg7"
      },
      {
        "slug": "atp8a2",
        "symbol": "ATP8A2",
        "name": "ATPase phospholipid transporting 8A2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/atp8a2"
      },
      {
        "slug": "ca8",
        "symbol": "CA8",
        "name": "carbonic anhydrase 8 (inactive)",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ca8"
      },
      {
        "slug": "cc2d2a",
        "symbol": "CC2D2A",
        "name": "coiled-coil and C2 domain containing 2A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cc2d2a"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "name": "centrosomal protein 290",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep290"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "name": "centrosomal protein 41",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cep41"
      },
      {
        "slug": "coa7",
        "symbol": "COA7",
        "name": "cytochrome c oxidase assembly factor 7",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/coa7"
      },
      {
        "slug": "coq8a",
        "symbol": "COQ8A",
        "name": "coenzyme Q8A",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/coq8a"
      },
      {
        "slug": "cspp1",
        "symbol": "CSPP1",
        "name": "centrosome and spindle pole associated protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/cspp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}