{
  "url": "https://dantelabs.com/genes/spart",
  "gene": {
    "slug": "spart",
    "symbol": "SPART",
    "name": "spartin",
    "hgnc": "HGNC:18514",
    "summary": null,
    "location": "13q13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA0610",
      "TAHCCP1"
    ],
    "previousSymbols": [
      "SPG20"
    ],
    "ensemblId": "ENSG00000133104",
    "entrezId": 23111,
    "omim": [
      "607111"
    ],
    "uniprot": [
      "Q8N0X7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 36301638,
      "end": 36346394,
      "strand": "-",
      "ensemblTranscript": "ENST00000438666.7",
      "refseqTranscript": "NM_015087.5",
      "ensemblProtein": "ENSP00000406061.2",
      "refseqProtein": "NP_055902.1",
      "exons": [
        {
          "start": 36301638,
          "end": 36304632
        },
        {
          "start": 36312145,
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        },
        {
          "start": 36312319,
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        {
          "start": 36314227,
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        },
        {
          "start": 36326575,
          "end": 36326698
        },
        {
          "start": 36329362,
          "end": 36329517
        },
        {
          "start": 36331399,
          "end": 36331596
        },
        {
          "start": 36335021,
          "end": 36335832
        },
        {
          "start": 36346225,
          "end": 36346394
        }
      ],
      "cds": {
        "start": 36304365,
        "end": 36335830
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 36875775,
      "end": 36944317,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 35824016,
      "end": 36824015,
      "genes": [
        {
          "symbol": "DCLK1",
          "ensemblId": "ENSG00000133083",
          "biotype": "protein_coding",
          "start": 35768652,
          "end": 36132164,
          "strand": "-",
          "slug": "dclk1"
        },
        {
          "symbol": "SOHLH2",
          "ensemblId": "ENSG00000120669",
          "biotype": "protein_coding",
          "start": 36168217,
          "end": 36214588,
          "strand": "-",
          "slug": "sohlh2"
        },
        {
          "symbol": "CCDC169-SOHLH2",
          "ensemblId": "ENSG00000250709",
          "biotype": "protein_coding",
          "start": 36168794,
          "end": 36297842,
          "strand": "-",
          "slug": "ccdc169-sohlh2"
        },
        {
          "symbol": "CCDC169",
          "ensemblId": "ENSG00000242715",
          "biotype": "protein_coding",
          "start": 36222004,
          "end": 36297873,
          "strand": "-",
          "slug": "ccdc169"
        },
        {
          "symbol": "CCNA1",
          "ensemblId": "ENSG00000133101",
          "biotype": "protein_coding",
          "start": 36431511,
          "end": 36442959,
          "strand": "+",
          "slug": "ccna1"
        },
        {
          "symbol": "SERTM1",
          "ensemblId": "ENSG00000180440",
          "biotype": "protein_coding",
          "start": 36673798,
          "end": 36698457,
          "strand": "+",
          "slug": "sertm1"
        },
        {
          "symbol": "RFXAP",
          "ensemblId": "ENSG00000133111",
          "biotype": "protein_coding",
          "start": 36819188,
          "end": 36848169,
          "strand": "+",
          "slug": "rfxap"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Hereditary Spastic Paraplegia",
        "diseases": [
          {
            "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": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/hereditary-spastic-paraplegia"
      },
      {
        "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"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/conditions/inherited-neurodegenerative-disorders-selected-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-foot-morphology",
        "name": "Abnormal feet structure",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-foot-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "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": "occasional",
        "url": "https://dantelabs.com/traits/ankle-clonus"
      },
      {
        "slug": "abnormal-brain-morphology",
        "name": "Abnormal shape of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brain-morphology"
      },
      {
        "slug": "abnormal-hand-morphology",
        "name": "Abnormal shape of hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hand-morphology"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "abnormality-of-the-hand",
        "name": "Abnormality of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hand"
      },
      {
        "slug": "abnormal-nostril-morphology",
        "name": "Abnormality of the nostrils",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nostril-morphology"
      },
      {
        "slug": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      },
      {
        "slug": "abnormal-thumb-morphology",
        "name": "Abnormality of the thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-thumb-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "hyperplasia-of-midface",
        "name": "Big midface",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/hyperplasia-of-midface"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "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": "increased-overbite",
        "name": "Deep bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-overbite"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-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": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "dysuria",
        "name": "Dull burning sensation with urination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysuria"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hyperextensible-hand-joints",
        "name": "Hyperextensible hand joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperextensible-hand-joints"
      },
      {
        "slug": "impaired-vibration-sensation-at-ankles",
        "name": "Impaired vibration sensation at ankles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-at-ankles"
      },
      {
        "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": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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": "knee-clonus",
        "name": "Knee clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/knee-clonus"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "panic-attack",
        "name": "Panic attack",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panic-attack"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "prominent-nose",
        "name": "Prominent nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-nose"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "slurred-speech",
        "name": "Slurred speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/slurred-speech"
      },
      {
        "slug": "spastic-dysarthria",
        "name": "Spastic dysarthria",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-dysarthria"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "speech-apraxia",
        "name": "Speech apraxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/speech-apraxia"
      },
      {
        "slug": "ulnar-deviation-of-the-hand",
        "name": "Ulnar deviation of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-hand"
      },
      {
        "slug": "upper-limb-spasticity",
        "name": "Uncontrollable movement in upper arms",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/upper-limb-spasticity"
      },
      {
        "slug": "urinary-urgency",
        "name": "Urinary urgency",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/urinary-urgency"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 2,
        "url": "https://dantelabs.com/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 2,
        "url": "https://dantelabs.com/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/ap5z1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/arl6ip1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 2,
        "url": "https://dantelabs.com/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 2,
        "url": "https://dantelabs.com/genes/atp13a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}