{ "url": "https://dantelabs.com/pt/genes/raf1", "gene": { "slug": "raf1", "symbol": "RAF1", "name": "Raf-1 proto-oncogene, serine/threonine kinase", "hgnc": "HGNC:9829", "summary": null, "location": "3p25.2", "locusType": "gene with protein product", "aliases": [ "Raf-1", "c-Raf", "CRAF" ], "previousSymbols": [], "ensemblId": "ENSG00000132155", "entrezId": 5894, "omim": [ "164760" ], "uniprot": [ "P04049" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 12583601, "end": 12664117, "strand": "-", "ensemblTranscript": "ENST00000251849.9", "refseqTranscript": "NM_002880.4", "ensemblProtein": "ENSP00000251849.4", "refseqProtein": "NP_002871.1", "exons": [ { "start": 12583601, "end": 12584657 }, { "start": 12584847, "end": 12584981 }, { "start": 12585122, "end": 12585253 }, { "start": 12585681, "end": 12585799 }, { "start": 12587591, "end": 12587637 }, { "start": 12590798, "end": 12590974 }, { "start": 12591708, "end": 12591792 }, { "start": 12599691, "end": 12599808 }, { "start": 12600152, "end": 12600279 }, { "start": 12600388, "end": 12600415 }, { "start": 12604136, "end": 12604289 }, { "start": 12606201, "end": 12606299 }, { "start": 12608766, "end": 12608923 }, { "start": 12609233, "end": 12609335 }, { "start": 12611950, "end": 12612062 }, { "start": 12618515, "end": 12618747 }, { "start": 12663813, "end": 12664117 } ], "cds": { "start": 12584514, "end": 12618721 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 12625100, "end": 12705725, "strand": "-" }, "neighbourhood": { "release": "116", "start": 12123859, "end": 13123858, "genes": [ { "symbol": "SYN2", "ensemblId": "ENSG00000157152", "biotype": "protein_coding", "start": 12004325, "end": 12192032, "strand": "+", "slug": "syn2" }, { "symbol": "TIMP4", "ensemblId": "ENSG00000157150", "biotype": "protein_coding", "start": 12149834, "end": 12159395, "strand": "-", "slug": "timp4" }, { "symbol": "PPARG", "ensemblId": "ENSG00000132170", "biotype": "protein_coding", "start": 12287368, "end": 12455622, "strand": "+", "slug": "pparg" }, { "symbol": "TSEN2", "ensemblId": "ENSG00000154743", "biotype": "protein_coding", "start": 12480529, "end": 12541549, "strand": "+", "slug": "tsen2" }, { "symbol": "MKRN2OS", "ensemblId": "ENSG00000225526", "biotype": "protein_coding", "start": 12514934, "end": 12561059, "strand": "-", "slug": "mkrn2os" }, { "symbol": "MKRN2", "ensemblId": "ENSG00000075975", "biotype": "protein_coding", "start": 12557011, "end": 12603555, "strand": "+", "slug": "mkrn2" }, { "symbol": "TMEM40", "ensemblId": "ENSG00000088726", "biotype": "protein_coding", "start": 12733528, "end": 12769457, "strand": "-", "slug": "tmem40" }, { "symbol": "CAND2", "ensemblId": "ENSG00000144712", "biotype": "protein_coding", "start": 12796472, "end": 12836433, "strand": "+", "slug": "cand2" }, { "symbol": "", "ensemblId": "ENSG00000289809", "biotype": "protein_coding", "start": 12825768, "end": 12871919, "strand": "+" }, { "symbol": "RPL32", "ensemblId": "ENSG00000144713", "biotype": "protein_coding", "start": 12834467, "end": 12841587, "strand": "-", "slug": "rpl32" }, { "symbol": "IQSEC1", "ensemblId": "ENSG00000144711", "biotype": "protein_coding", "start": 12897043, "end": 13283281, "strand": "-", "slug": "iqsec1" } ], "truncated": false }, "reports": [ { "slug": "dilated-cardiomyopathy", "name": "Miocardiopatia Dilatada", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Miocardiopatia Dilatada", "genes": 50, "inheritance": null, "description": "Aumento e enfraquecimento do ventrículo esquerdo não explicados por doença das artérias coronárias ou das válvulas; as formas hereditárias envolvem TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN e muitos outros genes, e incluem a síndrome de Barth e as distrofias musculares de Emery-Dreifuss.", "management": "Conhecer uma causa genética apoia a monitorização cardíaca precoce e o rastreio familiar e, para genes com elevado risco de arritmia, como LMNA, FLNC e RBM20, orienta as decisões sobre a monitorização do ritmo e sobre os desfibrilhadores implantáveis.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/dilated-cardiomyopathy" }, { "slug": "noonan-syndrome", "name": "Síndrome de Noonan", "diseases": [ { "mondoId": "MONDO:0018997", "name": "Síndrome de Noonan", "genes": 16, "inheritance": "autosomal-dominant", "description": "A síndrome de Noonan caracteriza-se por baixa estatura, dismorfismo facial típico e malformações cardíacas congénitas.", "management": "Vigilância cardíaca, apoio ao desenvolvimento, terapêutica com hormona do crescimento, aconselhamento genético, ensaios com inibidores da MEK", "evidence": { "gencc": [ "Ambry Genetics", "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": "Síndrome de Noonan e síndromes relacionadas com Noonan", "genes": 21, "inheritance": null, "description": "Um grupo de condições da via RAS, incluindo as síndromes de Noonan, Costello, cardiofaciocutânea e de Legius, com defeitos cardíacos variáveis, baixa estatura e traços faciais característicos.", "management": "Conhecer esta condição apoia a avaliação cardíaca, do crescimento e do desenvolvimento.", "evidence": { "gencc": [ "Ambry Genetics", "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/pt/conditions/noonan-syndrome" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Miocardiopatia Hipertrófica", "diseases": [ { "mondoId": "MONDO:0005045", "name": "Miocardiopatia Hipertrófica", "genes": 62, "inheritance": "autosomal-dominant", "description": "Doença em que o miocárdio está hipertrofiado sem uma causa evidente. A hipertrofia é, em geral, assimétrica e pode estar associada à obstrução da via de saída ventricular.", "management": "Betabloqueantes, bloqueadores dos canais de cálcio não di-hidropiridínicos, restrição da atividade física, aconselhamento genético", "evidence": { "gencc": [ "Ambry Genetics", "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/pt/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-endocardium-morphology", "name": "Abnormal endocardium morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-endocardium-morphology" }, { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "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": "very-frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "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-mitral-valve-morphology", "name": "Abnormal mitral valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-mitral-valve-morphology" }, { "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": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pulmonary-valve-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": "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": "abnormal-st-segment", "name": "Abnormal ST segment", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-st-segment" }, { "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-pulmonary-artery", "name": "Abnormality of lung artery", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-pulmonary-artery" }, { "slug": "abnormality-of-the-face", "name": "Abnormality of the face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-face" }, { "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": "very-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" ], "url": "https://dantelabs.com/traits/abnormal-sternum-morphology" }, { "slug": "abnormality-of-the-voice", "name": "Abnormality of the voice", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-voice" }, { "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": "frequent", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "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": "melanocytic-nevus", "name": "Beauty mark", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/melanocytic-nevus" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "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": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "large-for-gestational-age", "name": "Birth weight > 90th percentile", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/large-for-gestational-age" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "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": "frequent", "url": "https://dantelabs.com/traits/blue-irides" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brachycephaly" }, { "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": "bundle-branch-block", "name": "Bundle branch block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bundle-branch-block" }, { "slug": "neuroblastoma", "name": "Cancer of early nerve cells", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neuroblastoma" }, { "slug": "melanoma", "name": "Cancer of skin pigment cells", "systems": [ "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/melanoma" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "keratosis-pilaris", "name": "Chicken skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "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": "occasional", "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": "cutaneous-melanoma", "name": "Cutaneous melanoma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutaneous-melanoma" }, { "slug": "cystic-hygroma", "name": "Cystic hygroma", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cystic-hygroma" }, { "slug": "decreased-fertility", "name": "Decreased fertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-fertility" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "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": "frequent", "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": "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": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "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": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hypertrichosis", "name": "Excessive hair growth", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertrichosis" }, { "slug": "excessive-wrinkled-skin", "name": "Excessive wrinkled skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/excessive-wrinkled-skin" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "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": "fine-hair", "name": "Fine hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fine-hair" }, { "slug": "subcutaneous-nodule", "name": "Firm lump under the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subcutaneous-nodule" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "freckling", "name": "Freckling", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/freckling" }, { "slug": "thick-vermilion-border", "name": "Full lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "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": "very-frequent", "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": "congenital-giant-melanocytic-nevus", "name": "Giant pigmented mole", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/congenital-giant-melanocytic-nevus" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "myocardial-infarction", "name": "Heart attack", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myocardial-infarction" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "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": "sprengel-anomaly", "name": "High shoulder blade", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sprengel-anomaly" }, { "slug": "atrioventricular-canal-defect", "name": "Hole in center of heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrioventricular-canal-defect" }, { "slug": "hyperextensible-skin", "name": "Hyperelastic skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperextensible-skin" }, { "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": "hypophosphatemic-rickets", "name": "Hypophosphatemic rickets", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypophosphatemic-rickets" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "increased-left-ventricular-end-diastolic-volume", "name": "Increased left ventricular end-diastolic volume", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-left-ventricular-end-diastolic-volume" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pruritus" }, { "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": "anhidrosis", "name": "Lack of sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anhidrosis" }, { "slug": "left-ventricular-systolic-dysfunction", "name": "Left ventricular systolic dysfunction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/left-ventricular-systolic-dysfunction" }, { "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": "multiple-lentigines", "name": "Liver spots", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/multiple-lentigines" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "lipoatrophy", "name": "Loss of fat tissue in localized area", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipoatrophy" }, { "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": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "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": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "nevus", "name": "Mole", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nevus" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "myelodysplasia", "name": "Myelodysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myelodysplasia" }, { "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": "very-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": "orthopnea", "name": "Orthopnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/orthopnea" }, { "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" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cubitus-valgus" }, { "slug": "hypopigmented-skin-patches", "name": "Patchy loss of skin color", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypopigmented-skin-patches" }, { "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-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "poor-wound-healing", "name": "Poor wound healing", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-wound-healing" }, { "slug": "premature-thelarche", "name": "Premature breast development", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/premature-thelarche" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "spinal-cord-compression", "name": "Pressure on spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spinal-cord-compression" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "reduced-left-ventricular-ejection-fraction", "name": "Reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction" }, { "slug": "increased-intracranial-pressure", "name": "Rise in pressure inside skull", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-intracranial-pressure" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "severe-sensorineural-hearing-impairment", "name": "Severe sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-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": "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": "small-nail", "name": "Small nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/small-nail" }, { "slug": "laryngomalacia", "name": "Softening of voice box tissue", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/laryngomalacia" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "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": "spina-bifida-occulta", "name": "Spina bifida occulta", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spina-bifida-occulta" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "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": "very-frequent", "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": "thromboembolic-stroke", "name": "Thromboembolic stroke", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolic-stroke" }, { "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": "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": "ventricular-arrhythmia", "name": "Ventricular arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-arrhythmia" }, { "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": "occasional", "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "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": "very-frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "wide-intermamillary-distance", "name": "Wide-spaced nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wide-intermamillary-distance" }, { "slug": "scapular-winging", "name": "Winged shoulder blade", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scapular-winging" } ], "related": [ { "slug": "braf", "symbol": "BRAF", "name": "B-Raf proto-oncogene, serine/threonine kinase", "shared": 3, "url": "https://dantelabs.com/pt/genes/braf" }, { "slug": "erf", "symbol": "ERF", "name": "ETS2 repressor factor", "shared": 3, "url": "https://dantelabs.com/pt/genes/erf" }, { "slug": "kras", "symbol": "KRAS", "name": "KRas proto-oncogene, GTPase", "shared": 3, "url": "https://dantelabs.com/pt/genes/kras" }, { "slug": "lztr1", "symbol": "LZTR1", "name": "leucine zipper like post translational regulator 1", "shared": 3, "url": "https://dantelabs.com/pt/genes/lztr1" }, { "slug": "mapk1", "symbol": "MAPK1", "name": "mitogen-activated protein kinase 1", "shared": 3, "url": "https://dantelabs.com/pt/genes/mapk1" }, { "slug": "mras", "symbol": "MRAS", "name": "muscle RAS oncogene homolog", "shared": 3, "url": "https://dantelabs.com/pt/genes/mras" }, { "slug": "nras", "symbol": "NRAS", "name": "NRAS proto-oncogene, GTPase", "shared": 3, "url": "https://dantelabs.com/pt/genes/nras" }, { "slug": "ppp1cb", "symbol": "PPP1CB", "name": "protein phosphatase 1 catalytic subunit beta", "shared": 3, "url": "https://dantelabs.com/pt/genes/ppp1cb" }, { "slug": "ptpn11", "symbol": "PTPN11", "name": "protein tyrosine phosphatase non-receptor type 11", "shared": 3, "url": "https://dantelabs.com/pt/genes/ptpn11" }, { "slug": "rit1", "symbol": "RIT1", "name": "Ras like without CAAX 1", "shared": 3, "url": "https://dantelabs.com/pt/genes/rit1" }, { "slug": "rras2", "symbol": "RRAS2", "name": "RAS related 2", "shared": 3, "url": "https://dantelabs.com/pt/genes/rras2" }, { "slug": "shoc2", "symbol": "SHOC2", "name": "SHOC2 leucine rich repeat scaffold protein", "shared": 3, "url": "https://dantelabs.com/pt/genes/shoc2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 2, "url": "https://dantelabs.com/genes/raf1/variants", "items": [ { "slug": "p261s", "name": "P261S", "commonName": null, "symbol": "RAF1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.781C>T", "position": 12604189, "grch37Position": 12645688, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/raf1/variants/p261s" }, { "slug": "s257l", "name": "S257L", "commonName": null, "symbol": "RAF1", "classification": "pathogenic", "stars": 3, "hgvsC": "c.770C>T", "position": 12604200, "grch37Position": 12645699, "part": { "kind": "exon", "number": 7 }, "url": "https://dantelabs.com/genes/raf1/variants/s257l" } ] } }