{
  "url": "https://dantelabs.com/et/genes/ppib",
  "gene": {
    "slug": "ppib",
    "symbol": "PPIB",
    "name": "peptidylprolyl isomerase B",
    "hgnc": "HGNC:9255",
    "summary": null,
    "location": "15q22.31",
    "locusType": "gene with protein product",
    "aliases": [
      "CYPB",
      "OI9",
      "PPIase",
      "B",
      "CYP-S1",
      "SCYLP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000166794",
    "entrezId": 5479,
    "omim": [
      "123841"
    ],
    "uniprot": [
      "P23284"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 64155817,
      "end": 64163022,
      "strand": "-",
      "ensemblTranscript": "ENST00000300026.4",
      "refseqTranscript": "NM_000942.5",
      "ensemblProtein": "ENSP00000300026.4",
      "refseqProtein": "NP_000933.1",
      "exons": [
        {
          "start": 64155817,
          "end": 64156145
        },
        {
          "start": 64156725,
          "end": 64156909
        },
        {
          "start": 64160104,
          "end": 64160197
        },
        {
          "start": 64162041,
          "end": 64162154
        },
        {
          "start": 64162852,
          "end": 64163022
        }
      ],
      "cds": {
        "start": 64156023,
        "end": 64162986
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 64448011,
      "end": 64455404,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 63659420,
      "end": 64659419,
      "genes": [
        {
          "symbol": "HERC1",
          "ensemblId": "ENSG00000103657",
          "biotype": "protein_coding",
          "start": 63608618,
          "end": 63833997,
          "strand": "-",
          "slug": "herc1"
        },
        {
          "symbol": "DAPK2",
          "ensemblId": "ENSG00000035664",
          "biotype": "protein_coding",
          "start": 63907033,
          "end": 64072033,
          "strand": "-",
          "slug": "dapk2"
        },
        {
          "symbol": "CIAO2A",
          "ensemblId": "ENSG00000166797",
          "biotype": "protein_coding",
          "start": 64072113,
          "end": 64094262,
          "strand": "-",
          "slug": "ciao2a"
        },
        {
          "symbol": "SNX1",
          "ensemblId": "ENSG00000028528",
          "biotype": "protein_coding",
          "start": 64094123,
          "end": 64146571,
          "strand": "+",
          "slug": "snx1"
        },
        {
          "symbol": "SNX22",
          "ensemblId": "ENSG00000157734",
          "biotype": "protein_coding",
          "start": 64151601,
          "end": 64157481,
          "strand": "+",
          "slug": "snx22"
        },
        {
          "symbol": "CSNK1G1",
          "ensemblId": "ENSG00000169118",
          "biotype": "protein_coding",
          "start": 64165525,
          "end": 64356554,
          "strand": "-",
          "slug": "csnk1g1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000259316",
          "biotype": "protein_coding",
          "start": 64181180,
          "end": 64381440,
          "strand": "-"
        },
        {
          "symbol": "PCLAF",
          "ensemblId": "ENSG00000166803",
          "biotype": "protein_coding",
          "start": 64364129,
          "end": 64387687,
          "strand": "-",
          "slug": "pclaf"
        },
        {
          "symbol": "TRIP4",
          "ensemblId": "ENSG00000103671",
          "biotype": "protein_coding",
          "start": 64387748,
          "end": 64458653,
          "strand": "+",
          "slug": "trip4"
        },
        {
          "symbol": "ZNF609",
          "ensemblId": "ENSG00000180357",
          "biotype": "protein_coding",
          "start": 64460549,
          "end": 64686068,
          "strand": "+",
          "slug": "znf609"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "osteogenesis-imperfecta",
        "name": "Osteogenesis Imperfecta",
        "diseases": [
          {
            "mondoId": "MONDO:0019019",
            "name": "Osteogenesis Imperfecta",
            "genes": 34,
            "inheritance": null,
            "description": "Pärilike sidekoehaiguste rühm, mis põhjustab habraseid luid, mis murduvad kergesti; sageli kaasnevad sinised skleerad, kuulmiskaotus ja hambaprobleemid.",
            "management": "Tsüklilised intravenoossed bisfosfonaadid (pamidronaat, zoledronaat); pikkade luude ortopeediline vardastamine; füsioteraapia; denosumab (kasutusel lastel esineva OI korral); romosozumab (väljatöötamisel); kuulmise jälgimine; hambaravi dentinogenesis imperfecta korral",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/osteogenesis-imperfecta"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-periventricular-white-matter-morphology",
        "name": "Abnormal periventricular white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atrophy-degeneration-affecting-the-brainstem",
        "name": "Atrophy/Degeneration affecting the brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atrophy-degeneration-affecting-the-brainstem"
      },
      {
        "slug": "basal-ganglia-calcification",
        "name": "Basal ganglia calcification",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/basal-ganglia-calcification"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "bowing-of-limbs-due-to-multiple-fractures",
        "name": "Bowing of limbs due to multiple fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowing-of-limbs-due-to-multiple-fractures"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "vertebral-compression-fracture",
        "name": "Compression fracture of a vertebral body",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertebral-compression-fracture"
      },
      {
        "slug": "corpus-callosum-atrophy",
        "name": "Corpus callosum atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/corpus-callosum-atrophy"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "dentinogenesis-imperfecta",
        "name": "Dentinogenesis imperfecta",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dentinogenesis-imperfecta"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "duane-anomaly",
        "name": "Duane anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/duane-anomaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "wormian-bones",
        "name": "Extra bones within cranial sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wormian-bones"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "flat-occiput",
        "name": "Flat back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flat-occiput"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hip-joint-hypermobility",
        "name": "Hip joint hypermobility",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hip-joint-hypermobility"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "finger-joint-hypermobility",
        "name": "Increased mobility in finger joint",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/finger-joint-hypermobility"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "moderately-reduced-visual-acuity",
        "name": "Moderate visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/moderately-reduced-visual-acuity"
      },
      {
        "slug": "morning-glory-anomaly",
        "name": "Morning glory anomaly",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/morning-glory-anomaly"
      },
      {
        "slug": "multiple-prenatal-fractures",
        "name": "Multiple fractures present at birth",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-prenatal-fractures"
      },
      {
        "slug": "multiple-rib-fractures",
        "name": "Multiple rib fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/multiple-rib-fractures"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-lower-limbs",
        "name": "Short lower limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-lower-limbs"
      },
      {
        "slug": "decreased-calvarial-ossification",
        "name": "Soft skullcap",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-calvarial-ossification"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "temporal-optic-disc-pallor",
        "name": "Temporal optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/temporal-optic-disc-pallor"
      },
      {
        "slug": "diaphyseal-undertubulation",
        "name": "Thickening of shaft or central part of long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diaphyseal-undertubulation"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "hemiparesis",
        "name": "Weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hemiparesis"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ano5"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "name": "ATPase H+ transporting V0 subunit a2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp6v0a2"
      },
      {
        "slug": "bmp1",
        "symbol": "BMP1",
        "name": "bone morphogenetic protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bmp1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "name": "collagen type I alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "name": "collagen type I alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/col1a2"
      },
      {
        "slug": "creb3l1",
        "symbol": "CREB3L1",
        "name": "cAMP responsive element binding protein 3 like 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/creb3l1"
      },
      {
        "slug": "crtap",
        "symbol": "CRTAP",
        "name": "cartilage associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/crtap"
      },
      {
        "slug": "fkbp10",
        "symbol": "FKBP10",
        "name": "FKBP prolyl isomerase 10",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/fkbp10"
      },
      {
        "slug": "gorab",
        "symbol": "GORAB",
        "name": "golgin, RAB6 interacting",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/gorab"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ifih1"
      },
      {
        "slug": "ifitm5",
        "symbol": "IFITM5",
        "name": "interferon induced transmembrane protein 5",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ifitm5"
      },
      {
        "slug": "kdelr2",
        "symbol": "KDELR2",
        "name": "KDEL endoplasmic reticulum protein retention receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/kdelr2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}