{
  "url": "https://dantelabs.com/pl/genes/nop10",
  "gene": {
    "slug": "nop10",
    "symbol": "NOP10",
    "name": "NOP10 ribonucleoprotein",
    "hgnc": "HGNC:14378",
    "summary": null,
    "location": "15q14",
    "locusType": "gene with protein product",
    "aliases": [
      "NOP10P",
      "MGC70651"
    ],
    "previousSymbols": [
      "NOLA3"
    ],
    "ensemblId": "ENSG00000182117",
    "entrezId": 55505,
    "omim": [
      "606471"
    ],
    "uniprot": [
      "Q9NPE3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 34341719,
      "end": 34343136,
      "strand": "-",
      "ensemblTranscript": "ENST00000328848.6",
      "refseqTranscript": "NM_018648.4",
      "ensemblProtein": "ENSP00000332198.5",
      "refseqProtein": "NP_061118.1",
      "exons": [
        {
          "start": 34341719,
          "end": 34342108
        },
        {
          "start": 34343020,
          "end": 34343136
        }
      ],
      "cds": {
        "start": 34341968,
        "end": 34343073
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 34633917,
      "end": 34635378,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 33842428,
      "end": 34842427,
      "genes": [
        {
          "symbol": "RYR3",
          "ensemblId": "ENSG00000198838",
          "biotype": "protein_coding",
          "start": 33310947,
          "end": 33866121,
          "strand": "+",
          "slug": "ryr3"
        },
        {
          "symbol": "AVEN",
          "ensemblId": "ENSG00000169857",
          "biotype": "protein_coding",
          "start": 33836372,
          "end": 34075155,
          "strand": "-",
          "slug": "aven"
        },
        {
          "symbol": "CHRM5",
          "ensemblId": "ENSG00000184984",
          "biotype": "protein_coding",
          "start": 33968260,
          "end": 34067458,
          "strand": "+",
          "slug": "chrm5"
        },
        {
          "symbol": "EMC7",
          "ensemblId": "ENSG00000134153",
          "biotype": "protein_coding",
          "start": 34075970,
          "end": 34101929,
          "strand": "-",
          "slug": "emc7"
        },
        {
          "symbol": "PGBD4",
          "ensemblId": "ENSG00000182405",
          "biotype": "protein_coding",
          "start": 34102083,
          "end": 34108686,
          "strand": "+",
          "slug": "pgbd4"
        },
        {
          "symbol": "KATNBL1",
          "ensemblId": "ENSG00000134152",
          "biotype": "protein_coding",
          "start": 34140365,
          "end": 34210119,
          "strand": "-",
          "slug": "katnbl1"
        },
        {
          "symbol": "EMC4",
          "ensemblId": "ENSG00000128463",
          "biotype": "protein_coding",
          "start": 34224997,
          "end": 34230161,
          "strand": "+",
          "slug": "emc4"
        },
        {
          "symbol": "SLC12A6",
          "ensemblId": "ENSG00000140199",
          "biotype": "protein_coding",
          "start": 34229784,
          "end": 34338060,
          "strand": "-",
          "slug": "slc12a6"
        },
        {
          "symbol": "NUTM1",
          "ensemblId": "ENSG00000184507",
          "biotype": "protein_coding",
          "start": 34343315,
          "end": 34357737,
          "strand": "+",
          "slug": "nutm1"
        },
        {
          "symbol": "LPCAT4",
          "ensemblId": "ENSG00000176454",
          "biotype": "protein_coding",
          "start": 34358633,
          "end": 34367706,
          "strand": "-",
          "slug": "lpcat4"
        },
        {
          "symbol": "GOLGA8A",
          "ensemblId": "ENSG00000175265",
          "biotype": "protein_coding",
          "start": 34378935,
          "end": 34437851,
          "strand": "-",
          "slug": "golga8a"
        },
        {
          "symbol": "GOLGA8B",
          "ensemblId": "ENSG00000215252",
          "biotype": "protein_coding",
          "start": 34525084,
          "end": 34588503,
          "strand": "-",
          "slug": "golga8b"
        },
        {
          "symbol": "GJD2",
          "ensemblId": "ENSG00000159248",
          "biotype": "protein_coding",
          "start": 34751032,
          "end": 34755003,
          "strand": "-",
          "slug": "gjd2"
        },
        {
          "symbol": "ACTC1",
          "ensemblId": "ENSG00000159251",
          "biotype": "protein_coding",
          "start": 34790107,
          "end": 34795912,
          "strand": "-",
          "slug": "actc1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dyskeratosis-congenita",
        "name": "Wrodzona dyskeratoza",
        "diseases": [
          {
            "mondoId": "MONDO:0015780",
            "name": "Wrodzona dyskeratoza",
            "genes": 13,
            "inheritance": null,
            "description": "Wrodzona dyskeratoza (DC) to rzadka dysplazja ektodermalna, która często objawia się klasyczną triadą: dysplazją paznokci, zmianami barwnikowymi skóry oraz leukoplakią w jamie ustnej, a także wysokim ryzykiem niewydolności szpiku kostnego (BMF) i nowotworów.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/dyskeratosis-congenita"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "tracheoesophageal-fistula",
        "name": "Abnormal connection between trachea and esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tracheoesophageal-fistula"
      },
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "abnormal-eyelash-morphology",
        "name": "Abnormal eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-eyelash-morphology"
      },
      {
        "slug": "abnormal-fingernail-morphology",
        "name": "Abnormal fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology"
      },
      {
        "slug": "abnormal-morphology-of-female-internal-genitalia",
        "name": "Abnormal morphology of female internal genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neoplasm"
      },
      {
        "slug": "abnormality-of-coagulation",
        "name": "Abnormality of coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coagulation"
      },
      {
        "slug": "abnormality-of-neutrophils",
        "name": "Abnormality of neutrophils",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neutrophils"
      },
      {
        "slug": "abnormal-eyebrow-morphology",
        "name": "Abnormality of the eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-eyebrow-morphology"
      },
      {
        "slug": "abnormality-of-the-pharynx",
        "name": "Abnormality of the pharynx",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-pharynx"
      },
      {
        "slug": "abnormal-testis-morphology",
        "name": "Abnormality of the testis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-testis-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-skin",
        "name": "Absent/small skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-skin"
      },
      {
        "slug": "aplastic-hypoplastic-toenail",
        "name": "Absent/small toenails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplastic-hypoplastic-toenail"
      },
      {
        "slug": "anorectal-anomaly",
        "name": "Anorectal anomaly",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorectal-anomaly"
      },
      {
        "slug": "aplastic-anemia",
        "name": "Aplastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplastic-anemia"
      },
      {
        "slug": "nasolacrimal-duct-obstruction",
        "name": "Blocked tear duct",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/nasolacrimal-duct-obstruction"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "bone-marrow-hypocellularity",
        "name": "Bone marrow failure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "neoplasm-of-the-pancreas",
        "name": "Cancer of the pancreas",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas"
      },
      {
        "slug": "cellular-immunodeficiency",
        "name": "Cellular immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cellular-immunodeficiency"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "coarse-metaphyseal-trabecularization",
        "name": "Coarse metaphyseal trabecularization",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-metaphyseal-trabecularization"
      },
      {
        "slug": "avascular-necrosis",
        "name": "Death of bone due to decreased blood supply",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/avascular-necrosis"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "displacement-of-the-urethral-meatus",
        "name": "Displacement of the urethral meatus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/displacement-of-the-urethral-meatus"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "enterocolitis",
        "name": "Enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enterocolitis"
      },
      {
        "slug": "hyperhidrosis",
        "name": "Excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperhidrosis"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "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": "periodontitis",
        "name": "Gum disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periodontitis"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "epiphora",
        "name": "Increased tears",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/epiphora"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "mesangial-hypercellularity",
        "name": "Mesangial hypercellularity",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mesangial-hypercellularity"
      },
      {
        "slug": "nail-pterygium",
        "name": "Nail pterygium",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-pterygium"
      },
      {
        "slug": "esophageal-stricture",
        "name": "Narrowing of esophagus due to inflammation and scar tissue",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/esophageal-stricture"
      },
      {
        "slug": "esophageal-stenosis",
        "name": "Narrowing of the esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/esophageal-stenosis"
      },
      {
        "slug": "urethral-stenosis",
        "name": "Narrowing of the urethra",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urethral-stenosis"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "oral-leukoplakia",
        "name": "Oral white patch",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/oral-leukoplakia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "hypopigmented-skin-patches",
        "name": "Patchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopigmented-skin-patches"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "premature-graying-of-hair",
        "name": "Premature graying of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/premature-graying-of-hair"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "reticular-hyperpigmentation",
        "name": "Reticular hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reticular-hyperpigmentation"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-telomere-length",
        "name": "Short telomere length",
        "systems": [
          "abnormal-cellular-phenotype"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-telomere-length"
      },
      {
        "slug": "skin-vesicle",
        "name": "Skin vesicle",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-vesicle"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "small-nail",
        "name": "Small nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/small-nail"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "taurodontia",
        "name": "Taurodontia",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/taurodontia"
      },
      {
        "slug": "telangiectasia-of-the-skin",
        "name": "Telangiectasia of the skin",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/telangiectasia-of-the-skin"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "palmoplantar-hyperkeratosis",
        "name": "Thickening of the outer layer of the skin of the palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis"
      },
      {
        "slug": "white-hair",
        "name": "White hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/white-hair"
      }
    ],
    "related": [
      {
        "slug": "acd",
        "symbol": "ACD",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/acd"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "name": "CST telomere replication complex component 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ctc1"
      },
      {
        "slug": "dclre1b",
        "symbol": "DCLRE1B",
        "name": "DNA cross-link repair 1B",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dclre1b"
      },
      {
        "slug": "dkc1",
        "symbol": "DKC1",
        "name": "dyskerin pseudouridine synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/dkc1"
      },
      {
        "slug": "nhp2",
        "symbol": "NHP2",
        "name": "NHP2 ribonucleoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/nhp2"
      },
      {
        "slug": "npm1",
        "symbol": "NPM1",
        "name": "nucleophosmin 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/npm1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "name": "poly(A)-specific ribonuclease",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/parn"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "name": "regulator of telomere elongation helicase 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/rtel1"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "name": "telomerase RNA component",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/terc"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "name": "telomerase reverse transcriptase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/tert"
      },
      {
        "slug": "tinf2",
        "symbol": "TINF2",
        "name": "TERF1 interacting nuclear factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/tinf2"
      },
      {
        "slug": "wrap53",
        "symbol": "WRAP53",
        "name": "WD repeat containing antisense to TP53",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/wrap53"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}