{
  "url": "https://dantelabs.com/fr/genes/rad51c",
  "gene": {
    "slug": "rad51c",
    "symbol": "RAD51C",
    "name": "RAD51 paralog C",
    "hgnc": "HGNC:9820",
    "summary": null,
    "location": "17q22",
    "locusType": "gene with protein product",
    "aliases": [
      "RAD51L2",
      "FANCO"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000108384",
    "entrezId": 5889,
    "omim": [
      "602774"
    ],
    "uniprot": [
      "O43502"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 58692602,
      "end": 58735611,
      "strand": "+",
      "ensemblTranscript": "ENST00000337432.9",
      "refseqTranscript": "NM_058216.3",
      "ensemblProtein": "ENSP00000336701.4",
      "refseqProtein": "NP_478123.1",
      "exons": [
        {
          "start": 58692602,
          "end": 58692788
        },
        {
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      ],
      "cds": {
        "start": 58692644,
        "end": 58734222
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
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      "end": 56811703,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 58214107,
      "end": 59214106,
      "genes": [
        {
          "symbol": "MKS1",
          "ensemblId": "ENSG00000011143",
          "biotype": "protein_coding",
          "start": 58205350,
          "end": 58219605,
          "strand": "-",
          "slug": "mks1"
        },
        {
          "symbol": "LPO",
          "ensemblId": "ENSG00000167419",
          "biotype": "protein_coding",
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          "end": 58268518,
          "strand": "+",
          "slug": "lpo"
        },
        {
          "symbol": "MPO",
          "ensemblId": "ENSG00000005381",
          "biotype": "protein_coding",
          "start": 58269855,
          "end": 58280935,
          "strand": "-",
          "slug": "mpo"
        },
        {
          "symbol": "TSPOAP1",
          "ensemblId": "ENSG00000005379",
          "biotype": "protein_coding",
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          "end": 58328823,
          "strand": "-",
          "slug": "tspoap1"
        },
        {
          "symbol": "SUPT4H1",
          "ensemblId": "ENSG00000213246",
          "biotype": "protein_coding",
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          "end": 58353099,
          "strand": "-",
          "slug": "supt4h1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285897",
          "biotype": "protein_coding",
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          "end": 58417595,
          "strand": "-"
        },
        {
          "symbol": "RNF43",
          "ensemblId": "ENSG00000108375",
          "biotype": "protein_coding",
          "start": 58353671,
          "end": 58417735,
          "strand": "-",
          "slug": "rnf43"
        },
        {
          "symbol": "HSF5",
          "ensemblId": "ENSG00000176160",
          "biotype": "protein_coding",
          "start": 58420167,
          "end": 58488408,
          "strand": "-",
          "slug": "hsf5"
        },
        {
          "symbol": "MTMR4",
          "ensemblId": "ENSG00000108389",
          "biotype": "protein_coding",
          "start": 58489529,
          "end": 58517905,
          "strand": "-",
          "slug": "mtmr4"
        },
        {
          "symbol": "SEPTIN4",
          "ensemblId": "ENSG00000108387",
          "biotype": "protein_coding",
          "start": 58519969,
          "end": 58544368,
          "strand": "-",
          "slug": "septin4"
        },
        {
          "symbol": "TEX14",
          "ensemblId": "ENSG00000121101",
          "biotype": "protein_coding",
          "start": 58556678,
          "end": 58692055,
          "strand": "-",
          "slug": "tex14"
        },
        {
          "symbol": "IGBP1C",
          "ensemblId": "ENSG00000266826",
          "biotype": "protein_coding",
          "start": 58660424,
          "end": 58692055,
          "strand": "-",
          "slug": "igbp1c"
        },
        {
          "symbol": "PPM1E",
          "ensemblId": "ENSG00000175175",
          "biotype": "protein_coding",
          "start": 58755851,
          "end": 58985179,
          "strand": "+",
          "slug": "ppm1e"
        },
        {
          "symbol": "TRIM37",
          "ensemblId": "ENSG00000108395",
          "biotype": "protein_coding",
          "start": 58982633,
          "end": 59106921,
          "strand": "-",
          "slug": "trim37"
        },
        {
          "symbol": "SKA2",
          "ensemblId": "ENSG00000182628",
          "biotype": "protein_coding",
          "start": 59109857,
          "end": 59155260,
          "strand": "-",
          "slug": "ska2"
        },
        {
          "symbol": "PRR11",
          "ensemblId": "ENSG00000068489",
          "biotype": "protein_coding",
          "start": 59155732,
          "end": 59206709,
          "strand": "+",
          "slug": "prr11"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000265303",
          "biotype": "protein_coding",
          "start": 59197566,
          "end": 59215226,
          "strand": "+"
        },
        {
          "symbol": "SMG8",
          "ensemblId": "ENSG00000167447",
          "biotype": "protein_coding",
          "start": 59209400,
          "end": 59215249,
          "strand": "+",
          "slug": "smg8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "dna-repair-disease",
        "name": "Maladie liée à la réparation de l'ADN",
        "diseases": [
          {
            "mondoId": "MONDO:0021190",
            "name": "Maladie liée à la réparation de l'ADN",
            "genes": 43,
            "inheritance": "autosomal-recessive",
            "description": "Une maladie causée par une altération des mécanismes de réparation de l'ADN.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/dna-repair-disease"
      },
      {
        "slug": "fanconi-anemia",
        "name": "Anémie de Fanconi",
        "diseases": [
          {
            "mondoId": "MONDO:0019391",
            "name": "Anémie de Fanconi",
            "genes": 18,
            "inheritance": "autosomal-recessive",
            "description": "L'anémie de Fanconi (AF) est une maladie héréditaire de la réparation de l'ADN caractérisée par une pancytopénie progressive avec insuffisance médullaire, des malformations congénitales variables et une prédisposition au développement de tumeurs hématologiques ou solides.",
            "management": "Greffe de cellules souches hématopoïétiques avec conditionnement à intensité réduite spécifique à l'AF ; androgènes (oxymétholone) comme traitement d'attente ; surveillance oncologique des cancers des voies aérodigestives supérieures et gynécologiques ; thérapie génique dans le cadre d'essais cliniques",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/fanconi-anemia"
      },
      {
        "slug": "moderate-penetrance-breast-ovarian-cancer-genes",
        "name": "Gènes du cancer du sein et de l'ovaire autres que BRCA1/2",
        "diseases": [
          {
            "mondoId": "MONDO:0700273",
            "name": "Prédisposition au cancer liée à RAD51C",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Variants de RAD51C qui augmentent le risque de cancer de l'ovaire et, dans une moindre mesure, de cancer du sein.",
            "management": "L'ablation des ovaires et des trompes de Fallope est souvent envisagée à partir de la mi-quarantaine pour réduire le risque de cancer de l'ovaire.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0013253",
            "name": "Susceptibilité au cancer du sein et de l'ovaire familial 3 (RAD51C)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Susceptibilité au cancer du sein et de l'ovaire liée à RAD51C.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 7
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/moderate-penetrance-breast-ovarian-cancer-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-aortic-morphology",
        "name": "Abnormal aortic morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-aortic-morphology"
      },
      {
        "slug": "abnormal-aortic-valve-morphology",
        "name": "Abnormal aortic valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-aortic-valve-morphology"
      },
      {
        "slug": "abnormal-cardiac-septum-morphology",
        "name": "Abnormal cardiac septum morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology"
      },
      {
        "slug": "abnormal-carotid-artery-morphology",
        "name": "Abnormal carotid artery morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-carotid-artery-morphology"
      },
      {
        "slug": "tracheoesophageal-fistula",
        "name": "Abnormal connection between trachea and esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tracheoesophageal-fistula"
      },
      {
        "slug": "abnormal-fallopian-tube-morphology",
        "name": "Abnormal fallopian tube morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-fallopian-tube-morphology"
      },
      {
        "slug": "abnormal-foot-morphology",
        "name": "Abnormal feet structure",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-foot-morphology"
      },
      {
        "slug": "abnormal-localization-of-kidney",
        "name": "Abnormal localisation of kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-localization-of-kidney"
      },
      {
        "slug": "abnormal-morphology-of-ulna",
        "name": "Abnormal morphology of ulna",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-ulna"
      },
      {
        "slug": "abnormal-preputium-morphology",
        "name": "Abnormal preputium morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-preputium-morphology"
      },
      {
        "slug": "abnormal-nervous-system-morphology",
        "name": "Abnormal shape of nervous system",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-nervous-system-morphology"
      },
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neoplasm"
      },
      {
        "slug": "abnormality-of-blood-and-blood-forming-tissues",
        "name": "Abnormality of blood and blood-forming tissues",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues"
      },
      {
        "slug": "abnormality-of-chromosome-stability",
        "name": "Abnormality of chromosome stability",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-chromosome-stability"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormal-eyelid-morphology",
        "name": "Abnormality of the eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-eyelid-morphology"
      },
      {
        "slug": "abnormal-heart-morphology",
        "name": "Abnormality of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-heart-morphology"
      },
      {
        "slug": "abnormality-of-the-hypothalamus-pituitary-axis",
        "name": "Abnormality of the hypothalamus-pituitary axis",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "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": "abnormal-femur-morphology",
        "name": "Abnormality of the thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-femur-morphology"
      },
      {
        "slug": "abnormal-thumb-morphology",
        "name": "Abnormality of the thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-thumb-morphology"
      },
      {
        "slug": "abnormality-of-the-upper-limb",
        "name": "Abnormality of the upper limb",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-upper-limb"
      },
      {
        "slug": "abnormality-of-the-uterus",
        "name": "Abnormality of the uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-uterus"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "abnormal-renal-morphology",
        "name": "Abnormally shaped kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-renal-morphology"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anal-atresia",
        "name": "Absent anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anal-atresia"
      },
      {
        "slug": "azoospermia",
        "name": "Absent sperm in semen",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/azoospermia"
      },
      {
        "slug": "absent-testis",
        "name": "Absent testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-testis"
      },
      {
        "slug": "absent-thumb",
        "name": "Absent thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-thumb"
      },
      {
        "slug": "aplasia-hypoplasia-of-fingers",
        "name": "Absent/small fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-fingers"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-iris",
        "name": "Absent/small iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris"
      },
      {
        "slug": "renal-hypoplasia-aplasia",
        "name": "Absent/small kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-hypoplasia-aplasia"
      },
      {
        "slug": "almond-shaped-palpebral-fissure",
        "name": "Almond shaped eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/almond-shaped-palpebral-fissure"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-radius",
        "name": "Aplasia/Hypoplasia of the radius",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-radius"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-uvula",
        "name": "Aplasia/Hypoplasia of the uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uvula"
      },
      {
        "slug": "arteriovenous-malformation",
        "name": "Arteriovenous malformation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arteriovenous-malformation"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "proximal-placement-of-thumb",
        "name": "Attachment of thumb close to wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-placement-of-thumb"
      },
      {
        "slug": "choanal-atresia",
        "name": "Blockage of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choanal-atresia"
      },
      {
        "slug": "breast-carcinoma",
        "name": "Breast cancer",
        "systems": [
          "abnormality-of-the-breast",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/breast-carcinoma"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "melanoma",
        "name": "Cancer of skin pigment cells",
        "systems": [
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/melanoma"
      },
      {
        "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": "chromosome-breakage",
        "name": "Chromosome breakage",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chromosome-breakage"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "clubbing-of-toes",
        "name": "Clubbed toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clubbing-of-toes"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "renal-cyst",
        "name": "Cystic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-cyst"
      },
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-fertility-in-males",
        "name": "Decreased fertility in males",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-fertility-in-males"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "duodenal-stenosis",
        "name": "Duodenal stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/duodenal-stenosis"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "facial-asymmetry",
        "name": "Facial asymmetry",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-asymmetry"
      },
      {
        "slug": "finger-syndactyly",
        "name": "Finger syndactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/finger-syndactyly"
      },
      {
        "slug": "triphalangeal-thumb",
        "name": "Finger-like thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/triphalangeal-thumb"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "toe-syndactyly",
        "name": "Fused toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/toe-syndactyly"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hearing-abnormality",
        "name": "Hearing abnormality",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-abnormality"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "bicornuate-uterus",
        "name": "Heart shaped uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bicornuate-uterus"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irregular-hyperpigmentation",
        "name": "Irregular hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/irregular-hyperpigmentation"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "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": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "meckel-diverticulum",
        "name": "Meckel diverticulum",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meckel-diverticulum"
      },
      {
        "slug": "multiple-cafe-au-lait-spots",
        "name": "Multiple birthmarks",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "ovarian-neoplasm",
        "name": "Ovarian cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ovarian-neoplasm"
      },
      {
        "slug": "ovarian-carcinoma",
        "name": "Ovarian carcinoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/ovarian-carcinoma"
      },
      {
        "slug": "hypopigmented-skin-patches",
        "name": "Patchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypopigmented-skin-patches"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "primary-peritoneal-carcinoma",
        "name": "Primary peritoneal carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-peritoneal-carcinoma"
      },
      {
        "slug": "prostate-cancer",
        "name": "Prostate cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prostate-cancer"
      },
      {
        "slug": "pyridoxine-responsive-sideroblastic-anemia",
        "name": "Pyridoxine-responsive sideroblastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pyridoxine-responsive-sideroblastic-anemia"
      },
      {
        "slug": "rectal-atresia",
        "name": "Rectal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rectal-atresia"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "short-palpebral-fissure",
        "name": "Short opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-palpebral-fissure"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-thumb",
        "name": "Short thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-thumb"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "small-thenar-eminence",
        "name": "Small thenar eminence",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-thenar-eminence"
      },
      {
        "slug": "spina-bifida",
        "name": "Split spine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spina-bifida"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "tetralogy-of-fallot",
        "name": "Tetralogy of Fallot",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tetralogy-of-fallot"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypoplasia-of-the-ulna",
        "name": "Underdeveloped inner large forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-ulna"
      },
      {
        "slug": "hypoplasia-of-the-radius",
        "name": "Underdeveloped outer large forearm bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-radius"
      },
      {
        "slug": "external-genital-hypoplasia",
        "name": "Underdevelopment of external reproductive organs",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/external-genital-hypoplasia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "abnormality-of-the-urinary-system",
        "name": "Urinary tract abnormalities",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "name": "BRCA1 DNA repair associated",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "name": "BRCA2 DNA repair associated",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "name": "BRCA1 interacting DNA helicase 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/brip1"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/ercc4"
      },
      {
        "slug": "fanca",
        "symbol": "FANCA",
        "name": "FA complementation group A",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fanca"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "name": "FA complementation group B",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fancb"
      },
      {
        "slug": "fancc",
        "symbol": "FANCC",
        "name": "FA complementation group C",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fancc"
      },
      {
        "slug": "fancd2",
        "symbol": "FANCD2",
        "name": "FA complementation group D2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fancd2"
      },
      {
        "slug": "fance",
        "symbol": "FANCE",
        "name": "FA complementation group E",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fance"
      },
      {
        "slug": "fancf",
        "symbol": "FANCF",
        "name": "FA complementation group F",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fancf"
      },
      {
        "slug": "fancg",
        "symbol": "FANCG",
        "name": "FA complementation group G",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fancg"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "name": "FA complementation group I",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fanci"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}