{
  "url": "https://dantelabs.com/cs/genes/sh3tc2",
  "gene": {
    "slug": "sh3tc2",
    "symbol": "SH3TC2",
    "name": "SH3 domain and tetratricopeptide repeats 2",
    "hgnc": "HGNC:29427",
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      "Q8TF17"
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      "ensemblProtein": "ENSP00000423660.1",
      "refseqProtein": "NP_078853.2",
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      "build": "GRCh37",
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      "strand": "-"
    },
    "neighbourhood": {
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      "end": 149522605,
      "genes": [
        {
          "symbol": "HTR4",
          "ensemblId": "ENSG00000164270",
          "biotype": "protein_coding",
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          "end": 148677235,
          "strand": "-",
          "slug": "htr4"
        },
        {
          "symbol": "ADRB2",
          "ensemblId": "ENSG00000169252",
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        {
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          "ensemblId": "ENSG00000173210",
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          "slug": "ablim3"
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        {
          "symbol": "AFAP1L1",
          "ensemblId": "ENSG00000157510",
          "biotype": "protein_coding",
          "start": 149271786,
          "end": 149343637,
          "strand": "+",
          "slug": "afap1l1"
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        {
          "symbol": "GRPEL2",
          "ensemblId": "ENSG00000164284",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "grpel2"
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        {
          "symbol": "PCYOX1L",
          "ensemblId": "ENSG00000145882",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "IL17B",
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          "strand": "-",
          "slug": "il17b"
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        {
          "symbol": "CSNK1A1",
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          "end": 149551577,
          "strand": "-",
          "slug": "csnk1a1"
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      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Charcot-Marie-Tooth Disease",
            "genes": 62,
            "inheritance": null,
            "description": "A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.",
            "management": "Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/charcot-marie-tooth-disease-type-1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cranial-nerve-morphology",
        "name": "Abnormal cranial nerve morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cranial-nerve-morphology"
      },
      {
        "slug": "abnormal-foot-morphology",
        "name": "Abnormal feet structure",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-foot-morphology"
      },
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-pupillary-light-reflex",
        "name": "Abnormal pupillary light reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pupillary-light-reflex"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "anisocoria",
        "name": "Asymmetric pupil sizes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anisocoria"
      },
      {
        "slug": "axonal-degeneration",
        "name": "Axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/axonal-degeneration"
      },
      {
        "slug": "basal-lamina-onion-bulb-formation",
        "name": "Basal lamina onion bulb formation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/basal-lamina-onion-bulb-formation"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "constrictive-median-neuropathy",
        "name": "Constrictive median neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/constrictive-median-neuropathy"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "upper-limb-muscle-weakness",
        "name": "Decreased arm strength",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness"
      },
      {
        "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": "decreased-number-of-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-number-of-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-brainstem-auditory-evoked-response-conduction-time",
        "name": "Delayed brainstem auditory evoked response conduction time",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-brainstem-auditory-evoked-response-conduction-time"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "emg-chronic-denervation-signs",
        "name": "EMG: chronic denervation signs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-chronic-denervation-signs"
      },
      {
        "slug": "facial-paralysis",
        "name": "Facial paralysis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-paralysis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "functional-motor-deficit",
        "name": "Functional motor deficit",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/functional-motor-deficit"
      },
      {
        "slug": "greater-auricular-nerve-thickening",
        "name": "Greater auricular nerve thickening",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/greater-auricular-nerve-thickening"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "head-tremor",
        "name": "Head tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/head-tremor"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "impaired-pain-sensation",
        "name": "Impaired pain sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-pain-sensation"
      },
      {
        "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": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "neuropathic-spinal-arthropathy",
        "name": "Neuropathic spinal arthropathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neuropathic-spinal-arthropathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "abnormal-optic-nerve-morphology",
        "name": "Optic nerve issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology"
      },
      {
        "slug": "peripheral-axonal-degeneration",
        "name": "Peripheral axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-axonal-degeneration"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "pes-valgus",
        "name": "Pes valgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pes-valgus"
      },
      {
        "slug": "positive-romberg-sign",
        "name": "Positive Romberg sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/positive-romberg-sign"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "segmental-peripheral-demyelination",
        "name": "Segmental peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/segmental-peripheral-demyelination"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "sensory-ataxia",
        "name": "Sensory ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensory-ataxia"
      },
      {
        "slug": "mononeuropathy",
        "name": "Single damaged nerve",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mononeuropathy"
      },
      {
        "slug": "hypoventilation",
        "name": "Slow breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoventilation"
      },
      {
        "slug": "tongue-muscle-weakness",
        "name": "Tongue muscle weakness",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tongue-muscle-weakness"
      },
      {
        "slug": "tongue-fasciculations",
        "name": "Tongue twitching",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-fasciculations"
      },
      {
        "slug": "trigeminal-neuralgia",
        "name": "Trigeminal neuralgia",
        "systems": [
          "abnormality-of-the-nervous-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/trigeminal-neuralgia"
      },
      {
        "slug": "tongue-atrophy",
        "name": "Wasting of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tongue-atrophy"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "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"
      },
      {
        "slug": "vocal-cord-paresis",
        "name": "Weakness of the vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vocal-cord-paresis"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/aifm1"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/atp1a1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cadm3"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dync1h1"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "name": "early growth response 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/egr2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "name": "fibulin 5",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/fbln5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}