{
  "url": "https://dantelabs.com/es/genes/ggcx",
  "gene": {
    "slug": "ggcx",
    "symbol": "GGCX",
    "name": "gamma-glutamyl carboxylase",
    "hgnc": "HGNC:4247",
    "summary": null,
    "location": "2p11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "VKCFD1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000115486",
    "entrezId": 2677,
    "omim": [
      "137167"
    ],
    "uniprot": [
      "P38435"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 85544720,
      "end": 85561493,
      "strand": "-",
      "ensemblTranscript": "ENST00000233838.9",
      "refseqTranscript": "NM_000821.7",
      "ensemblProtein": "ENSP00000233838.3",
      "refseqProtein": "NP_000812.2",
      "exons": [
        {
          "start": 85544720,
          "end": 85550126
        },
        {
          "start": 85550555,
          "end": 85550750
        },
        {
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        },
        {
          "start": 85551480,
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        },
        {
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          "end": 85551981
        },
        {
          "start": 85552416,
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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          "end": 85555590
        },
        {
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          "end": 85556260
        },
        {
          "start": 85558440,
          "end": 85558605
        },
        {
          "start": 85558917,
          "end": 85559075
        },
        {
          "start": 85560815,
          "end": 85560985
        },
        {
          "start": 85561386,
          "end": 85561493
        }
      ],
      "cds": {
        "start": 85549934,
        "end": 85561428
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 85771846,
      "end": 85788670,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 85053107,
      "end": 86053106,
      "genes": [
        {
          "symbol": "KCMF1",
          "ensemblId": "ENSG00000176407",
          "biotype": "protein_coding",
          "start": 84971093,
          "end": 85059472,
          "strand": "+",
          "slug": "kcmf1"
        },
        {
          "symbol": "TCF7L1",
          "ensemblId": "ENSG00000152284",
          "biotype": "protein_coding",
          "start": 85133348,
          "end": 85310388,
          "strand": "+",
          "slug": "tcf7l1"
        },
        {
          "symbol": "TGOLN2",
          "ensemblId": "ENSG00000152291",
          "biotype": "protein_coding",
          "start": 85311668,
          "end": 85328301,
          "strand": "-",
          "slug": "tgoln2"
        },
        {
          "symbol": "RETSAT",
          "ensemblId": "ENSG00000042445",
          "biotype": "protein_coding",
          "start": 85341948,
          "end": 85354655,
          "strand": "-",
          "slug": "retsat"
        },
        {
          "symbol": "ELMOD3",
          "ensemblId": "ENSG00000115459",
          "biotype": "protein_coding",
          "start": 85354394,
          "end": 85391752,
          "strand": "+",
          "slug": "elmod3"
        },
        {
          "symbol": "CAPG",
          "ensemblId": "ENSG00000042493",
          "biotype": "protein_coding",
          "start": 85388144,
          "end": 85422017,
          "strand": "-",
          "slug": "capg"
        },
        {
          "symbol": "SH2D6",
          "ensemblId": "ENSG00000152292",
          "biotype": "protein_coding",
          "start": 85418714,
          "end": 85437029,
          "strand": "+",
          "slug": "sh2d6"
        },
        {
          "symbol": "MAT2A",
          "ensemblId": "ENSG00000168906",
          "biotype": "protein_coding",
          "start": 85539163,
          "end": 85545281,
          "strand": "+",
          "slug": "mat2a"
        },
        {
          "symbol": "VAMP8",
          "ensemblId": "ENSG00000118640",
          "biotype": "protein_coding",
          "start": 85561562,
          "end": 85582032,
          "strand": "+",
          "slug": "vamp8"
        },
        {
          "symbol": "VAMP5",
          "ensemblId": "ENSG00000168899",
          "biotype": "protein_coding",
          "start": 85584397,
          "end": 85593421,
          "strand": "+",
          "slug": "vamp5"
        },
        {
          "symbol": "RNF181",
          "ensemblId": "ENSG00000168894",
          "biotype": "protein_coding",
          "start": 85595620,
          "end": 85598589,
          "strand": "+",
          "slug": "rnf181"
        },
        {
          "symbol": "TMEM150A",
          "ensemblId": "ENSG00000168890",
          "biotype": "protein_coding",
          "start": 85598547,
          "end": 85603201,
          "strand": "-",
          "slug": "tmem150a"
        },
        {
          "symbol": "USP39",
          "ensemblId": "ENSG00000168883",
          "biotype": "protein_coding",
          "start": 85602856,
          "end": 85657710,
          "strand": "+",
          "slug": "usp39"
        },
        {
          "symbol": "C2orf68",
          "ensemblId": "ENSG00000168887",
          "biotype": "protein_coding",
          "start": 85605254,
          "end": 85612066,
          "strand": "-",
          "slug": "c2orf68"
        },
        {
          "symbol": "SFTPB",
          "ensemblId": "ENSG00000168878",
          "biotype": "protein_coding",
          "start": 85655154,
          "end": 85668741,
          "strand": "-",
          "slug": "sftpb"
        },
        {
          "symbol": "GNLY",
          "ensemblId": "ENSG00000115523",
          "biotype": "protein_coding",
          "start": 85685175,
          "end": 85698854,
          "strand": "+",
          "slug": "gnly"
        },
        {
          "symbol": "ATOH8",
          "ensemblId": "ENSG00000168874",
          "biotype": "protein_coding",
          "start": 85751344,
          "end": 85794266,
          "strand": "+",
          "slug": "atoh8"
        },
        {
          "symbol": "ST3GAL5",
          "ensemblId": "ENSG00000115525",
          "biotype": "protein_coding",
          "start": 85837120,
          "end": 85905199,
          "strand": "-",
          "slug": "st3gal5"
        },
        {
          "symbol": "POLR1A",
          "ensemblId": "ENSG00000068654",
          "biotype": "protein_coding",
          "start": 86020216,
          "end": 86106155,
          "strand": "-",
          "slug": "polr1a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pseudoxanthoma-elasticum",
        "name": "Pseudoxantoma elástico",
        "diseases": [
          {
            "mondoId": "MONDO:0012570",
            "name": "Laxitud cutánea similar a la del PXE con déficit de factores de coagulación dependientes de la vitamina K",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Trastorno de GGCX con cambios cutáneos similares a los del PXE y niveles reducidos de factores de coagulación.",
            "management": "Pueden recomendarse pruebas de coagulación y suplementos de vitamina K.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/pseudoxanthoma-elasticum"
      },
      {
        "slug": "rare-inherited-coagulation-factor-deficiencies",
        "name": "Deficiencias hereditarias raras de factores de coagulación",
        "diseases": [
          {
            "mondoId": "MONDO:0015722",
            "name": "Deficiencias congénitas de factores de coagulación dependientes de la vitamina K",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Deficiencias hereditarias de protrombina (factor II), del factor VII o del factor X, o de todos los factores dependientes de la vitamina K en conjunto (causadas por cambios en GGCX o VKORC1), que pueden provocar hemorragias nasales, hematomas fáciles y sangrado tras una lesión, una cirugía o el parto.",
            "management": "Conocerlo con antelación permite planificar la sustitución de factores alrededor de una cirugía o del parto; la forma combinada suele responder a la vitamina K.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/rare-inherited-coagulation-factor-deficiencies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-fundus-morphology",
        "name": "Abnormal fundus morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-fundus-morphology"
      },
      {
        "slug": "abnormal-umbilical-stump-bleeding",
        "name": "Abnormal umbilical stump bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-umbilical-stump-bleeding"
      },
      {
        "slug": "abnormal-vaginal-bleeding",
        "name": "Abnormal vaginal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-vaginal-bleeding"
      },
      {
        "slug": "abnormality-of-coagulation",
        "name": "Abnormality of coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coagulation"
      },
      {
        "slug": "menorrhagia",
        "name": "Abnormally heavy bleeding during menstruation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/menorrhagia"
      },
      {
        "slug": "absent-retinal-pigment-epithelium",
        "name": "Absent retinal pigment epithelium",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-retinal-pigment-epithelium"
      },
      {
        "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": "very-rare",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "angioid-streaks",
        "name": "Angioid streaks",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/angioid-streaks"
      },
      {
        "slug": "gingival-bleeding",
        "name": "Bleeding gums",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gingival-bleeding"
      },
      {
        "slug": "cerebral-hemorrhage",
        "name": "Bleeding in brain",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-hemorrhage"
      },
      {
        "slug": "post-partum-hemorrhage",
        "name": "Bleeding post-delivery",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/post-partum-hemorrhage"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "joint-hemorrhage",
        "name": "Bleeding within a joint",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hemorrhage"
      },
      {
        "slug": "intracranial-hemorrhage",
        "name": "Bleeding within the skull",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intracranial-hemorrhage"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "cephalohematoma",
        "name": "Cephalohematoma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cephalohematoma"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "decreased-level-of-heparin-co-factor-ii",
        "name": "Decreased level of heparin co-factor II",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-level-of-heparin-co-factor-ii"
      },
      {
        "slug": "hypoplasia-of-the-nasal-bone",
        "name": "Decreased size of nasal bone",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-nasal-bone"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "ecchymosis",
        "name": "Ecchymosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ecchymosis"
      },
      {
        "slug": "endocarditis",
        "name": "Endocarditis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/endocarditis"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "fragmented-elastic-fibers-in-the-dermis",
        "name": "Fragmented elastic fibers in the dermis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fragmented-elastic-fibers-in-the-dermis"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "cutis-laxa",
        "name": "Hanging skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutis-laxa"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "increased-number-of-skin-folds",
        "name": "Increased number of skin folds",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-number-of-skin-folds"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "redundant-skin",
        "name": "Loose redundant skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/redundant-skin"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "atherosclerosis",
        "name": "Narrowing and hardening of arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atherosclerosis"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "pulmonary-artery-stenosis",
        "name": "Narrowing of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-artery-stenosis"
      },
      {
        "slug": "peripheral-pulmonary-artery-stenosis",
        "name": "Narrowing of peripheral lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-pulmonary-artery-stenosis"
      },
      {
        "slug": "abnormal-optic-nerve-morphology",
        "name": "Optic nerve issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "papule",
        "name": "Papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/papule"
      },
      {
        "slug": "peau-d-orange",
        "name": "Peau d'orange",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peau-d-orange"
      },
      {
        "slug": "prolonged-bleeding-following-circumcision",
        "name": "Prolonged bleeding following circumcision",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-following-circumcision"
      },
      {
        "slug": "prolonged-bleeding-following-procedure",
        "name": "Prolonged bleeding following procedure",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-following-procedure"
      },
      {
        "slug": "prolonged-partial-thromboplastin-time",
        "name": "Prolonged partial thromboplastin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-partial-thromboplastin-time"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "reduced-factor-ix-activity",
        "name": "Reduced factor IX activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-factor-ix-activity"
      },
      {
        "slug": "reduced-factor-vii-activity",
        "name": "Reduced factor VII activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-factor-vii-activity"
      },
      {
        "slug": "reduced-factor-viii-activity",
        "name": "Reduced factor VIII activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-factor-viii-activity"
      },
      {
        "slug": "reduced-factor-x-activity",
        "name": "Reduced factor X activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-factor-x-activity"
      },
      {
        "slug": "reduced-protein-c-activity",
        "name": "Reduced protein C activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-protein-c-activity"
      },
      {
        "slug": "reduced-protein-s-activity",
        "name": "Reduced protein S activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-protein-s-activity"
      },
      {
        "slug": "redundant-neck-skin",
        "name": "Redundant neck skin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/redundant-neck-skin"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "slug": "shortening-of-all-distal-phalanges-of-the-fingers",
        "name": "Shortening of all outermost bones of the fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shortening-of-all-distal-phalanges-of-the-fingers"
      },
      {
        "slug": "epiphyseal-stippling",
        "name": "Speckled calcifications in end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epiphyseal-stippling"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "supravalvar-pulmonary-stenosis",
        "name": "Supravalvar pulmonary stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/supravalvar-pulmonary-stenosis"
      },
      {
        "slug": "yellow-papule",
        "name": "Yellow papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/yellow-papule"
      }
    ],
    "related": [
      {
        "slug": "f10",
        "symbol": "F10",
        "name": "coagulation factor X",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/f10"
      },
      {
        "slug": "f2",
        "symbol": "F2",
        "name": "coagulation factor II, thrombin",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/f2"
      },
      {
        "slug": "f7",
        "symbol": "F7",
        "name": "coagulation factor VII",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/f7"
      },
      {
        "slug": "vkorc1",
        "symbol": "VKORC1",
        "name": "vitamin K epoxide reductase complex subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/vkorc1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}