{
  "url": "https://dantelabs.com/ro/genes/sos1",
  "gene": {
    "slug": "sos1",
    "symbol": "SOS1",
    "name": "SOS Ras/Rac guanine nucleotide exchange factor 1",
    "hgnc": "HGNC:11187",
    "summary": null,
    "location": "2p22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "HGF",
      "GF1"
    ],
    "previousSymbols": [
      "GINGF"
    ],
    "ensemblId": "ENSG00000115904",
    "entrezId": 6654,
    "omim": [
      "182530"
    ],
    "uniprot": [
      "Q07889"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 38981549,
      "end": 39121051,
      "strand": "-",
      "ensemblTranscript": "ENST00000402219.8",
      "refseqTranscript": "NM_005633.4",
      "ensemblProtein": "ENSP00000384675.2",
      "refseqProtein": "NP_005624.2",
      "exons": [
        {
          "start": 38981549,
          "end": 38986315
        },
        {
          "start": 38987473,
          "end": 38987591
        },
        {
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        {
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        },
        {
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        },
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        },
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        },
        {
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        },
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          "end": 39010703
        },
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        },
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        },
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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          "end": 39035310
        },
        {
          "start": 39035390,
          "end": 39035500
        },
        {
          "start": 39051144,
          "end": 39051287
        },
        {
          "start": 39054614,
          "end": 39054823
        },
        {
          "start": 39056702,
          "end": 39056866
        },
        {
          "start": 39058673,
          "end": 39058804
        },
        {
          "start": 39067628,
          "end": 39067753
        },
        {
          "start": 39120336,
          "end": 39121051
        }
      ],
      "cds": {
        "start": 38985824,
        "end": 39120422
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 39208537,
      "end": 39351486,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 38551300,
      "end": 39551299,
      "genes": [
        {
          "symbol": "HNRNPLL",
          "ensemblId": "ENSG00000143889",
          "biotype": "protein_coding",
          "start": 38561891,
          "end": 38603586,
          "strand": "-",
          "slug": "hnrnpll"
        },
        {
          "symbol": "GALM",
          "ensemblId": "ENSG00000143891",
          "biotype": "protein_coding",
          "start": 38665906,
          "end": 38766049,
          "strand": "+",
          "slug": "galm"
        },
        {
          "symbol": "SRSF7",
          "ensemblId": "ENSG00000115875",
          "biotype": "protein_coding",
          "start": 38743599,
          "end": 38751498,
          "strand": "-",
          "slug": "srsf7"
        },
        {
          "symbol": "GEMIN6",
          "ensemblId": "ENSG00000152147",
          "biotype": "protein_coding",
          "start": 38751534,
          "end": 38785002,
          "strand": "+",
          "slug": "gemin6"
        },
        {
          "symbol": "DHX57",
          "ensemblId": "ENSG00000163214",
          "biotype": "protein_coding",
          "start": 38797724,
          "end": 38875943,
          "strand": "-",
          "slug": "dhx57"
        },
        {
          "symbol": "MORN2",
          "ensemblId": "ENSG00000188010",
          "biotype": "protein_coding",
          "start": 38875969,
          "end": 38882709,
          "strand": "+",
          "slug": "morn2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000310583",
          "biotype": "protein_coding",
          "start": 38875991,
          "end": 38929071,
          "strand": "+"
        },
        {
          "symbol": "ARHGEF33",
          "ensemblId": "ENSG00000214694",
          "biotype": "protein_coding",
          "start": 38889839,
          "end": 38975468,
          "strand": "+",
          "slug": "arhgef33"
        },
        {
          "symbol": "CDKL4",
          "ensemblId": "ENSG00000205111",
          "biotype": "protein_coding",
          "start": 39167972,
          "end": 39243983,
          "strand": "-",
          "slug": "cdkl4"
        },
        {
          "symbol": "MAP4K3",
          "ensemblId": "ENSG00000011566",
          "biotype": "protein_coding",
          "start": 39249266,
          "end": 39437354,
          "strand": "-",
          "slug": "map4k3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-gingival-fibromatosis",
        "name": "Fibromatoza gingivală ereditară",
        "diseases": [
          {
            "mondoId": "MONDO:0016070",
            "name": "Fibromatoza gingivală ereditară",
            "genes": 2,
            "inheritance": "autosomal-dominant",
            "description": "Supracreștere lent progresivă, non-inflamatorie, a țesutului gingival, asociată cu gene precum SOS1 și REST, care începe adesea odată cu erupția dinților permanenți.",
            "management": "Cunoașterea acestei afecțiuni poate sprijini un diagnostic mai timpuriu și planificarea intervenției chirurgicale gingivale și a tratamentului ortodontic, precum și informarea rudelor.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/hereditary-gingival-fibromatosis"
      },
      {
        "slug": "noonan-syndrome",
        "name": "Sindromul Noonan",
        "diseases": [
          {
            "mondoId": "MONDO:0018997",
            "name": "Sindromul Noonan",
            "genes": 16,
            "inheritance": "autosomal-dominant",
            "description": "Sindromul Noonan (SN) se caracterizează prin statură scurtă, dismorfism facial tipic și malformații cardiace congenitale.",
            "management": "Supraveghere cardiacă, sprijin pentru dezvoltare, terapie cu hormon de creștere, consiliere genetică, studii clinice cu inhibitori MEK",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 8
            },
            "sameAsReport": true,
            "broad": false
          },
          {
            "mondoId": "MONDO:0020297",
            "name": "Sindromul Noonan și sindroamele asociate Noonan",
            "genes": 21,
            "inheritance": null,
            "description": "Un grup de afecțiuni ale căii RAS, inclusiv sindroamele Noonan, Costello, cardiofaciocutanat și Legius, cu defecte cardiace variabile, statură scundă și trăsături faciale distinctive.",
            "management": "Cunoașterea acestui aspect sprijină evaluarea inimii, a creșterii și a dezvoltării.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 8
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/noonan-syndrome"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Cardiomiopatie hipertrofică",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Cardiomiopatie hipertrofică",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "Afecțiune în care miocardul este hipertrofiat fără o cauză evidentă. Hipertrofia este, în general, asimetrică și poate fi asociată cu obstrucția tractului de ejecție al ventriculului.",
            "management": "Beta-blocante, blocante ale canalelor de calciu non-dihidropiridinice, restricții de activitate, consiliere genetică",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 8
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-ekg",
        "name": "Abnormal EKG",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-ekg"
      },
      {
        "slug": "abnormal-dermatoglyphics",
        "name": "Abnormal fingerprints",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-dermatoglyphics"
      },
      {
        "slug": "abnormal-hair-quantity",
        "name": "Abnormal hair quantity",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-quantity"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-platelet-function",
        "name": "Abnormal platelet function",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-platelet-function"
      },
      {
        "slug": "abnormal-pulmonary-valve-morphology",
        "name": "Abnormal pulmonary valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-valve-morphology"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "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-the-lymphatic-system",
        "name": "Abnormality of the lymphatic system",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-lymphatic-system"
      },
      {
        "slug": "abnormality-of-the-genital-system",
        "name": "Abnormality of the reproductive system",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genital-system"
      },
      {
        "slug": "abnormality-of-the-spleen",
        "name": "Abnormality of the spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-spleen"
      },
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-abdominal-wall-musculature",
        "name": "Absent/small abdominal wall muscles",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-abdominal-wall-musculature"
      },
      {
        "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-of-the-semicircular-canal",
        "name": "Aplasia of the semicircular canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-of-the-semicircular-canal"
      },
      {
        "slug": "dental-malocclusion",
        "name": "Bad bite",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/dental-malocclusion"
      },
      {
        "slug": "melanocytic-nevus",
        "name": "Beauty mark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/melanocytic-nevus"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "large-for-gestational-age",
        "name": "Birth weight > 90th percentile",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-for-gestational-age"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "blue-irides",
        "name": "Blue eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blue-irides"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "keratosis-pilaris",
        "name": "Chicken skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratosis-pilaris"
      },
      {
        "slug": "coarse-hair",
        "name": "Coarse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-hair"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "curly-hair",
        "name": "Curly hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/curly-hair"
      },
      {
        "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": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-menarche",
        "name": "Delayed start of first period",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-menarche"
      },
      {
        "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": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dilatation-of-the-renal-pelvis",
        "name": "Dilatation of the renal pelvis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-renal-pelvis"
      },
      {
        "slug": "ureteral-duplication",
        "name": "Double ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ureteral-duplication"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-ptosis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "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": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "thick-vermilion-border",
        "name": "Full lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-vermilion-border"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "radioulnar-synostosis",
        "name": "Fused forearm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/radioulnar-synostosis"
      },
      {
        "slug": "gingival-fibromatosis",
        "name": "Gingival fibromatosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gingival-fibromatosis"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-anterior-hairline",
        "name": "High frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/high-anterior-hairline"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "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": "juvenile-myelomonocytic-leukemia",
        "name": "Juvenile myelomonocytic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/juvenile-myelomonocytic-leukemia"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "pulmonary-artery-stenosis",
        "name": "Narrowing of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-artery-stenosis"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "cubitus-valgus",
        "name": "Outward turned elbows",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cubitus-valgus"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "pectus-excavatum-of-inferior-sternum",
        "name": "Pectus excavatum of inferior sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-excavatum-of-inferior-sternum"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "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": "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-xi-activity",
        "name": "Reduced factor XI activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-factor-xi-activity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "thickened-helices",
        "name": "Thickened helices",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thickened-helices"
      },
      {
        "slug": "thickened-nuchal-skin-fold",
        "name": "Thickened skin folds of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thickened-nuchal-skin-fold"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "webbed-neck",
        "name": "Webbed neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/webbed-neck"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-mouth"
      },
      {
        "slug": "enlarged-thorax",
        "name": "Wide rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlarged-thorax"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wide-intermamillary-distance",
        "name": "Wide-spaced nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-intermamillary-distance"
      }
    ],
    "related": [
      {
        "slug": "braf",
        "symbol": "BRAF",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/braf"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/erf"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "name": "KRas proto-oncogene, GTPase",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/kras"
      },
      {
        "slug": "lztr1",
        "symbol": "LZTR1",
        "name": "leucine zipper like post translational regulator 1",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/lztr1"
      },
      {
        "slug": "mapk1",
        "symbol": "MAPK1",
        "name": "mitogen-activated protein kinase 1",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/mapk1"
      },
      {
        "slug": "mras",
        "symbol": "MRAS",
        "name": "muscle RAS oncogene homolog",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/mras"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "name": "NRAS proto-oncogene, GTPase",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/nras"
      },
      {
        "slug": "ppp1cb",
        "symbol": "PPP1CB",
        "name": "protein phosphatase 1 catalytic subunit beta",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/ppp1cb"
      },
      {
        "slug": "ptpn11",
        "symbol": "PTPN11",
        "name": "protein tyrosine phosphatase non-receptor type 11",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/ptpn11"
      },
      {
        "slug": "raf1",
        "symbol": "RAF1",
        "name": "Raf-1 proto-oncogene, serine/threonine kinase",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/raf1"
      },
      {
        "slug": "rit1",
        "symbol": "RIT1",
        "name": "Ras like without CAAX 1",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/rit1"
      },
      {
        "slug": "rras2",
        "symbol": "RRAS2",
        "name": "RAS related 2",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/rras2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 13,
    "url": "https://dantelabs.com/genes/sos1/variants",
    "items": [
      {
        "slug": "e108k",
        "name": "E108K",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.322G>A",
        "position": 39058696,
        "grch37Position": 39285837,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/sos1/variants/e108k"
      },
      {
        "slug": "e846k",
        "name": "E846K",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.2536G>A",
        "position": 39007168,
        "grch37Position": 39234309,
        "part": {
          "kind": "exon",
          "number": 16
        },
        "url": "https://dantelabs.com/genes/sos1/variants/e846k"
      },
      {
        "slug": "f623i",
        "name": "F623I",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1867T>A",
        "position": 39014838,
        "grch37Position": 39241979,
        "part": {
          "kind": "exon",
          "number": 11
        },
        "url": "https://dantelabs.com/genes/sos1/variants/f623i"
      },
      {
        "slug": "k170e",
        "name": "K170E",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.508A>G",
        "position": 39056704,
        "grch37Position": 39283845,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/sos1/variants/k170e"
      },
      {
        "slug": "m269t",
        "name": "M269T",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.806T>C",
        "position": 39051202,
        "grch37Position": 39278343,
        "part": {
          "kind": "exon",
          "number": 6
        },
        "url": "https://dantelabs.com/genes/sos1/variants/m269t"
      },
      {
        "slug": "r552g",
        "name": "R552G",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1654A>G",
        "position": 39022774,
        "grch37Position": 39249915,
        "part": {
          "kind": "exon",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/sos1/variants/r552g"
      },
      {
        "slug": "r552k",
        "name": "R552K",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1655G>A",
        "position": 39022773,
        "grch37Position": 39249914,
        "part": {
          "kind": "exon",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/sos1/variants/r552k"
      },
      {
        "slug": "r552m",
        "name": "R552M",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.1655G>T",
        "position": 39022773,
        "grch37Position": 39249914,
        "part": {
          "kind": "exon",
          "number": 10
        },
        "url": "https://dantelabs.com/genes/sos1/variants/r552m"
      },
      {
        "slug": "r552s",
        "name": "R552S",
        "commonName": null,
        "symbol": "SOS1",
        "classification": "pathogenic",
        "stars": 3,
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}