{
  "url": "https://dantelabs.com/tr/genes/atl1",
  "gene": {
    "slug": "atl1",
    "symbol": "ATL1",
    "name": "atlastin GTPase 1",
    "hgnc": "HGNC:11231",
    "summary": null,
    "location": "14q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FSP1",
      "AD-FSP"
    ],
    "previousSymbols": [
      "SPG3",
      "SPG3A"
    ],
    "ensemblId": "ENSG00000198513",
    "entrezId": 51062,
    "omim": [
      "606439"
    ],
    "uniprot": [
      "Q8WXF7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "14",
      "start": 50560145,
      "end": 50633045,
      "strand": "+",
      "ensemblTranscript": "ENST00000358385.12",
      "refseqTranscript": "NM_015915.5",
      "ensemblProtein": "ENSP00000351155.7",
      "refseqProtein": "NP_056999.2",
      "exons": [
        {
          "start": 50560145,
          "end": 50560299
        },
        {
          "start": 50587831,
          "end": 50588078
        },
        {
          "start": 50590941,
          "end": 50591075
        },
        {
          "start": 50591535,
          "end": 50591639
        },
        {
          "start": 50593846,
          "end": 50593896
        },
        {
          "start": 50595576,
          "end": 50595632
        },
        {
          "start": 50613259,
          "end": 50613351
        },
        {
          "start": 50614373,
          "end": 50614511
        },
        {
          "start": 50620599,
          "end": 50620726
        },
        {
          "start": 50621843,
          "end": 50621899
        },
        {
          "start": 50623177,
          "end": 50623248
        },
        {
          "start": 50628031,
          "end": 50628462
        },
        {
          "start": 50629995,
          "end": 50630009
        },
        {
          "start": 50632229,
          "end": 50633045
        }
      ],
      "cds": {
        "start": 50560266,
        "end": 50632339
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "14",
      "start": 50999227,
      "end": 51099786,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 50096595,
      "end": 51096594,
      "genes": [
        {
          "symbol": "VCPKMT",
          "ensemblId": "ENSG00000100483",
          "biotype": "protein_coding",
          "start": 50108631,
          "end": 50116600,
          "strand": "-",
          "slug": "vcpkmt"
        },
        {
          "symbol": "SOS2",
          "ensemblId": "ENSG00000100485",
          "biotype": "protein_coding",
          "start": 50116801,
          "end": 50231930,
          "strand": "-",
          "slug": "sos2"
        },
        {
          "symbol": "L2HGDH",
          "ensemblId": "ENSG00000087299",
          "biotype": "protein_coding",
          "start": 50237563,
          "end": 50312243,
          "strand": "-",
          "slug": "l2hgdh"
        },
        {
          "symbol": "DMAC2L",
          "ensemblId": "ENSG00000125375",
          "biotype": "protein_coding",
          "start": 50311516,
          "end": 50356756,
          "strand": "+",
          "slug": "dmac2l"
        },
        {
          "symbol": "CDKL1",
          "ensemblId": "ENSG00000100490",
          "biotype": "protein_coding",
          "start": 50326265,
          "end": 50416461,
          "strand": "-",
          "slug": "cdkl1"
        },
        {
          "symbol": "MAP4K5",
          "ensemblId": "ENSG00000012983",
          "biotype": "protein_coding",
          "start": 50417845,
          "end": 50561126,
          "strand": "-",
          "slug": "map4k5"
        },
        {
          "symbol": "SAV1",
          "ensemblId": "ENSG00000151748",
          "biotype": "protein_coding",
          "start": 50626616,
          "end": 50668600,
          "strand": "-",
          "slug": "sav1"
        },
        {
          "symbol": "NIN",
          "ensemblId": "ENSG00000100503",
          "biotype": "protein_coding",
          "start": 50719763,
          "end": 50832038,
          "strand": "-",
          "slug": "nin"
        },
        {
          "symbol": "PYGL",
          "ensemblId": "ENSG00000100504",
          "biotype": "protein_coding",
          "start": 50857891,
          "end": 50944734,
          "strand": "-",
          "slug": "pygl"
        },
        {
          "symbol": "ABHD12B",
          "ensemblId": "ENSG00000131969",
          "biotype": "protein_coding",
          "start": 50872046,
          "end": 50904970,
          "strand": "+",
          "slug": "abhd12b"
        },
        {
          "symbol": "TRIM9",
          "ensemblId": "ENSG00000100505",
          "biotype": "protein_coding",
          "start": 50975254,
          "end": 51096084,
          "strand": "-",
          "slug": "trim9"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-sensory-and-autonomic-neuropathies",
        "name": "Kalıtsal Duyusal ve Otonom Nöropatiler (Familyal Disotonomi Dahil)",
        "diseases": [
          {
            "mondoId": "MONDO:0015364",
            "name": "Kalıtsal Duyusal ve Otonom Nöropati",
            "genes": 21,
            "inheritance": null,
            "description": "Familyal disotonomi (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) ve konjenital ağrı duyarsızlığı (NTRK1, SCN9A, PRDM12) dahil olmak üzere bir nöropati grubudur. Bunların çoğu çekiniktir; HSAN1 ise baskındır.",
            "management": "Fark edilmeyen yaralanmalara, yanıklara ve enfeksiyonlara karşı koruma, otonom semptomların yönetimi ve yakınlar için taşıyıcılık testi (familyal disotonomi, Aşkenazi Yahudi taşıyıcı taramasına dahildir).",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/hereditary-sensory-and-autonomic-neuropathies"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Kalıtsal Spastik Paraplezi",
        "diseases": [
          {
            "mondoId": "MONDO:0008437",
            "name": "Kalıtsal Spastik Paraplezi 3a",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Hastalığın nedeninin ATL1 geninde bir mutasyon olduğu herhangi bir kalıtsal spastik paraplezi.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019064",
            "name": "Herediter Spastik Parapleji (Tüm Tipler)",
            "genes": 66,
            "inheritance": null,
            "description": "SPG4 (SPAST), en yaygın dominant form olmak üzere ve SPG5A, SPG6, SPG10, SPG18, SPG30 ile SPG31 dahil olmak üzere tüm herediter spastik paraplejileri kapsayan şemsiye terim.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/hereditary-spastic-paraplegia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "ankle-clonus",
        "name": "Abnormal rhythmic movements of ankle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ankle-clonus"
      },
      {
        "slug": "gait-imbalance",
        "name": "Abnormality of balance",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-imbalance"
      },
      {
        "slug": "abnormality-of-the-autonomic-nervous-system",
        "name": "Abnormality of the autonomic nervous system",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-autonomic-nervous-system"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "autoamputation-of-digits",
        "name": "Autoamputation of digits",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/autoamputation-of-digits"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "decreased-amplitude-of-sensory-action-potentials",
        "name": "Decreased amplitude of sensory action potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-amplitude-of-sensory-action-potentials"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "impaired-distal-tactile-sensation",
        "name": "Decreased touch sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-distal-tactile-sensation"
      },
      {
        "slug": "degeneration-of-the-lateral-corticospinal-tracts",
        "name": "Degeneration of the lateral corticospinal tracts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/degeneration-of-the-lateral-corticospinal-tracts"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "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": "very-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": "occasional",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "distal-sensory-impairment-of-all-modalities",
        "name": "Distal sensory impairment of all modalities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/distal-sensory-impairment-of-all-modalities"
      },
      {
        "slug": "emg-slow-motor-conduction",
        "name": "EMG: slow motor conduction",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emg-slow-motor-conduction"
      },
      {
        "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": "very-rare",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hyperesthesia",
        "name": "Hyperesthesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperesthesia"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "impaired-ability-to-dress-oneself",
        "name": "Impaired ability to dress oneself",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-ability-to-dress-oneself"
      },
      {
        "slug": "impaired-temperature-sensation",
        "name": "Impaired temperature sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-temperature-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": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "hypohidrosis-or-hyperhidrosis",
        "name": "Lack of sweating or excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis-or-hyperhidrosis"
      },
      {
        "slug": "paraplegia",
        "name": "Leg paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paraplegia"
      },
      {
        "slug": "limb-pain",
        "name": "Limb pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-pain"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "lower-limb-hypertonia",
        "name": "Lower limb hypertonia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lower-limb-hypertonia"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "motor-axonal-neuropathy",
        "name": "Motor axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-axonal-neuropathy"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neuropathic-arthropathy",
        "name": "Neuropathic arthropathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neuropathic-arthropathy"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "pain-insensitivity",
        "name": "Pain insensitivity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pain-insensitivity"
      },
      {
        "slug": "penetrating-foot-ulcers",
        "name": "Penetrating foot ulcers",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/penetrating-foot-ulcers"
      },
      {
        "slug": "peripheral-axonal-neuropathy",
        "name": "Peripheral axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "poor-wound-healing",
        "name": "Poor wound healing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-wound-healing"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "bradykinesia",
        "name": "Slow movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/bradykinesia"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "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": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "trophic-changes-related-to-pain",
        "name": "Trophic changes related to pain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/trophic-changes-related-to-pain"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "urinary-bladder-sphincter-dysfunction",
        "name": "Urinary bladder sphincter dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction"
      },
      {
        "slug": "urinary-urgency",
        "name": "Urinary urgency",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-urgency"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "name": "kinesin family member 1A",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/kif1a"
      },
      {
        "slug": "tecpr2",
        "symbol": "TECPR2",
        "name": "tectonin beta-propeller repeat containing 2",
        "shared": 2,
        "url": "https://dantelabs.com/tr/genes/tecpr2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/abhd16a"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aifm1"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/ap5z1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}