{
  "url": "https://dantelabs.com/genes/bscl2",
  "gene": {
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    "symbol": "BSCL2",
    "name": "BSCL2 lipid droplet biogenesis associated, seipin",
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      "606158"
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    "uniprot": [
      "Q96G97"
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        {
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        {
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        {
          "symbol": "SCGB1A1",
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        {
          "symbol": "ROM1",
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        {
          "symbol": "B3GAT3",
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        {
          "symbol": "GANAB",
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        {
          "symbol": "INTS5",
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        {
          "symbol": "",
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        {
          "symbol": "C11orf98",
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        {
          "symbol": "LBHD1",
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        {
          "symbol": "CSKMT",
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        {
          "symbol": "UQCC3",
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        {
          "symbol": "UBXN1",
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        {
          "symbol": "LRRN4CL",
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          "biotype": "protein_coding",
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        {
          "symbol": "HNRNPUL2-BSCL2",
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          "slug": "hnrnpul2-bscl2"
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        {
          "symbol": "GNG3",
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        {
          "symbol": "HNRNPUL2",
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        {
          "symbol": "",
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        {
          "symbol": "TTC9C",
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        {
          "symbol": "ZBTB3",
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          "biotype": "protein_coding",
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        {
          "symbol": "POLR2G",
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        {
          "symbol": "TAF6L",
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          "biotype": "protein_coding",
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        {
          "symbol": "TMEM223",
          "ensemblId": "ENSG00000168569",
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          "slug": "tmem223"
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        {
          "symbol": "TMEM179B",
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        {
          "symbol": "NXF1",
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        {
          "symbol": "STX5",
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        {
          "symbol": "TEX54",
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          "biotype": "protein_coding",
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        {
          "symbol": "WDR74",
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          "biotype": "protein_coding",
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          "slug": "wdr74"
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        {
          "symbol": "RNU2-2",
          "ensemblId": "ENSG00000222328",
          "biotype": "other",
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          "slug": "rnu2-2"
        },
        {
          "symbol": "SLC3A2",
          "ensemblId": "ENSG00000168003",
          "biotype": "protein_coding",
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          "slug": "slc3a2"
        },
        {
          "symbol": "CHRM1",
          "ensemblId": "ENSG00000168539",
          "biotype": "protein_coding",
          "start": 62907828,
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          "strand": "-",
          "slug": "chrm1"
        },
        {
          "symbol": "SLC22A6",
          "ensemblId": "ENSG00000197901",
          "biotype": "protein_coding",
          "start": 62936385,
          "end": 62984973,
          "strand": "-",
          "slug": "slc22a6"
        },
        {
          "symbol": "SLC22A8",
          "ensemblId": "ENSG00000149452",
          "biotype": "protein_coding",
          "start": 62989154,
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          "slug": "slc22a8"
        },
        {
          "symbol": "SLC22A24",
          "ensemblId": "ENSG00000197658",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "slc22a24"
        },
        {
          "symbol": "SLC22A25",
          "ensemblId": "ENSG00000196600",
          "biotype": "protein_coding",
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          "end": 63243788,
          "strand": "-",
          "slug": "slc22a25"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0018894",
            "name": "Distal Hereditary Motor Neuropathy",
            "genes": 22,
            "inheritance": null,
            "description": "Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabetes Mellitus",
            "genes": 31,
            "inheritance": null,
            "description": "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.",
            "management": "Teplizumab (Tzield) for stage 2 presymptomatic T1D (FDA approved 2022); insulin replacement at clinical T1D onset; TrialNet autoantibody screening for high-risk relatives; closed-loop insulin delivery systems",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/diabetes-mellitus"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Hereditary Spastic Paraplegia",
        "diseases": [
          {
            "mondoId": "MONDO:0010043",
            "name": "Hereditary Spastic Paraplegia 17",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019064",
            "name": "Hereditary Spastic Paraplegia (All Types)",
            "genes": 66,
            "inheritance": null,
            "description": "Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "lipodystrophy",
        "name": "Lipodystrophy",
        "diseases": [
          {
            "mondoId": "MONDO:0018883",
            "name": "Berardinelli-Seip Congenital Lipodystrophy",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0006536",
            "name": "Congenital Generalized Lipodystrophy",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/lipodystrophy"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Neonatal Diabetes Mellitus",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Neonatal diabetes mellitus",
            "genes": 20,
            "inheritance": null,
            "description": "Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.",
            "management": "Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/neonatal-diabetes-mellitus"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Spinal Muscular Atrophy",
        "diseases": [
          {
            "mondoId": "MONDO:0001516",
            "name": "Spinal Muscular Atrophy",
            "genes": 28,
            "inheritance": null,
            "description": "A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.",
            "management": "Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/spinal-muscular-atrophy"
      },
      {
        "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": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Rare Hereditary Peripheral Neuropathies",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Hereditary Peripheral Neuropathy",
            "genes": 233,
            "inheritance": null,
            "description": "Caused by changes in one of many genes needed to keep long nerve fibres healthy. In this report these include IGHMBP2 and PLEKHG5, which are recessive.",
            "management": "Physiotherapy, orthoses and occupational therapy help maintain mobility, with surgery for foot deformities when needed. Some forms need breathing monitoring. Genetic counselling guides family testing according to the inheritance pattern of the gene involved.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-foot-musculature",
        "name": "Abnormal foot muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-foot-musculature"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-motor-nerve-conduction-velocity",
        "name": "Abnormal motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-motor-nerve-conduction-velocity"
      },
      {
        "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": "acute-pancreatitis",
        "name": "Acute pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/acute-pancreatitis"
      },
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "ankle-weakness",
        "name": "Ankle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankle-weakness"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "insulin-resistance",
        "name": "Body fails to respond to insulin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/insulin-resistance"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "caudate-atrophy",
        "name": "Caudate atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/caudate-atrophy"
      },
      {
        "slug": "chaddock-reflex",
        "name": "Chaddock reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chaddock-reflex"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "cold-induced-hand-cramps",
        "name": "Cold-induced hand cramps",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cold-induced-hand-cramps"
      },
      {
        "slug": "cystic-angiomatosis-of-bone",
        "name": "Cystic angiomatosis of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cystic-angiomatosis-of-bone"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "upper-limb-muscle-weakness",
        "name": "Decreased arm strength",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness"
      },
      {
        "slug": "decreased-compound-muscle-action-potential-amplitude",
        "name": "Decreased compound muscle action potential amplitude",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-compound-muscle-action-potential-amplitude"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "slug": "decreased-fertility-in-females",
        "name": "Decreased fertility in females",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-fertility-in-females"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "decreased-serum-leptin",
        "name": "Decreased serum leptin",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-serum-leptin"
      },
      {
        "slug": "impaired-distal-tactile-sensation",
        "name": "Decreased touch sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-tactile-sensation"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-hemoglobin-a1c",
        "name": "Elevated hemoglobin A1c",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-hemoglobin-a1c"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/clitoral-hypertrophy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "labial-hypertrophy",
        "name": "Enlargement of the labia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/labial-hypertrophy"
      },
      {
        "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": "generalized-hirsutism",
        "name": "Excessive hairiness over body",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hirsutism"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "first-dorsal-interossei-muscle-atrophy",
        "name": "First dorsal interossei muscle atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/first-dorsal-interossei-muscle-atrophy"
      },
      {
        "slug": "first-dorsal-interossei-muscle-weakness",
        "name": "First dorsal interossei muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/first-dorsal-interossei-muscle-weakness"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "generalized-lipodystrophy",
        "name": "Generalized lipodystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-lipodystrophy"
      },
      {
        "slug": "generalized-muscular-appearance-from-birth",
        "name": "Generalized muscular appearance from birth",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-muscular-appearance-from-birth"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "hand-muscle-atrophy",
        "name": "Hand muscle degeneration",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hand-muscle-atrophy"
      },
      {
        "slug": "hand-muscle-weakness",
        "name": "Hand muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-muscle-weakness"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "abnormally-high-pitched-voice",
        "name": "High pitched voice",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hip-pain",
        "name": "Hip pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-pain"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "impaired-distal-proprioception",
        "name": "Impaired distal proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-proprioception"
      },
      {
        "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": "frequent",
        "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": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "polyphagia",
        "name": "Increased appetite",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polyphagia"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "insulin-resistant-diabetes-mellitus-at-puberty",
        "name": "Insulin-resistant diabetes mellitus at puberty",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus-at-puberty"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "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": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "knee-pain",
        "name": "Knee pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/knee-pain"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "large-hands",
        "name": "Large hands",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/large-hands"
      },
      {
        "slug": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "long-foot",
        "name": "Long foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/long-foot"
      },
      {
        "slug": "neuronal-loss-in-central-nervous-system",
        "name": "Loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "loss-of-speech",
        "name": "Loss of speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-speech"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "motor-polyneuropathy",
        "name": "Motor polyneuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-polyneuropathy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "pes-valgus",
        "name": "Pes valgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-valgus"
      },
      {
        "slug": "polycystic-ovaries",
        "name": "Polycystic ovaries",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polycystic-ovaries"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "progressive-encephalopathy",
        "name": "Progressive brain disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-encephalopathy"
      },
      {
        "slug": "progressive-psychomotor-deterioration",
        "name": "Progressive psychomotor deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-psychomotor-deterioration"
      },
      {
        "slug": "prominent-umbilicus",
        "name": "Prominent belly button",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/prominent-umbilicus"
      },
      {
        "slug": "reduced-subcutaneous-adipose-tissue",
        "name": "Reduced fat tissue below the skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue"
      },
      {
        "slug": "reduced-intraabdominal-adipose-tissue",
        "name": "Reduced intraabdominal adipose tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-intraabdominal-adipose-tissue"
      },
      {
        "slug": "reduced-intrathoracic-adipose-tissue",
        "name": "Reduced intrathoracic adipose tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-intrathoracic-adipose-tissue"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "split-hand",
        "name": "Split hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/split-hand"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "tetraparesis",
        "name": "Tetraparesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tetraparesis"
      },
      {
        "slug": "thenar-muscle-atrophy",
        "name": "Thenar muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thenar-muscle-atrophy"
      },
      {
        "slug": "thenar-muscle-weakness",
        "name": "Thenar muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thenar-muscle-weakness"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "ventricular-septal-hypertrophy",
        "name": "Ventricular septal hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "name": "receptor accessory protein 1",
        "shared": 5,
        "url": "https://dantelabs.com/genes/reep1"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "name": "spectrin alpha, non-erythrocytic 1",
        "shared": 5,
        "url": "https://dantelabs.com/genes/sptan1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 4,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 4,
        "url": "https://dantelabs.com/genes/dctn1"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 4,
        "url": "https://dantelabs.com/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 4,
        "url": "https://dantelabs.com/genes/dync1h1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 4,
        "url": "https://dantelabs.com/genes/emilin1"
      },
      {
        "slug": "fbxo38",
        "symbol": "FBXO38",
        "name": "F-box protein 38",
        "shared": 4,
        "url": "https://dantelabs.com/genes/fbxo38"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "name": "glycyl-tRNA synthetase 1",
        "shared": 4,
        "url": "https://dantelabs.com/genes/gars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "name": "heat shock protein family B (small) member 8",
        "shared": 4,
        "url": "https://dantelabs.com/genes/hspb8"
      },
      {
        "slug": "ighmbp2",
        "symbol": "IGHMBP2",
        "name": "immunoglobulin mu DNA binding protein 2",
        "shared": 4,
        "url": "https://dantelabs.com/genes/ighmbp2"
      },
      {
        "slug": "plekhg5",
        "symbol": "PLEKHG5",
        "name": "pleckstrin homology and RhoGEF domain containing G5",
        "shared": 4,
        "url": "https://dantelabs.com/genes/plekhg5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}