{ "url": "https://dantelabs.com/tr/genes/sox5", "gene": { "slug": "sox5", "symbol": "SOX5", "name": "SRY-box transcription factor 5", "hgnc": "HGNC:11201", "summary": null, "location": "12p12.1", "locusType": "gene with protein product", "aliases": [ "L-SOX5", "MGC35153" ], "previousSymbols": [], "ensemblId": "ENSG00000134532", "entrezId": 6660, "omim": [ "604975" ], "uniprot": [ "P35711" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 23529504, "end": 23949670, "strand": "-", "ensemblTranscript": "ENST00000451604.7", "refseqTranscript": "NM_006940.6", "ensemblProtein": "ENSP00000398273.2", "refseqProtein": "NP_008871.3", "exons": [ { "start": 23529504, "end": 23534522 }, { "start": 23536453, "end": 23536669 }, { "start": 23543211, "end": 23543384 }, { "start": 23546316, "end": 23546424 }, { "start": 23563258, "end": 23563403 }, { "start": 23575661, "end": 23575838 }, { "start": 23604387, "end": 23604533 }, { "start": 23640812, "end": 23640897 }, { "start": 23665444, "end": 23665564 }, { "start": 23734684, "end": 23734752 }, { "start": 23740867, "end": 23741039 }, { "start": 23755638, "end": 23755724 }, { "start": 23845983, "end": 23846193 }, { "start": 23895793, "end": 23896024 }, { "start": 23949564, "end": 23949670 } ], "cds": { "start": 23534219, "end": 23949601 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 23682440, "end": 24103966, "strand": "-" }, "neighbourhood": { "release": "116", "start": 23109337, "end": 24369837, "genes": [], "truncated": false }, "reports": [ { "slug": "lamb-shaffer-syndrome", "name": "Lamb-Shaffer Sendromu", "diseases": [ { "mondoId": "MONDO:0014778", "name": "Lamb-Shaffer Sendromu", "genes": 1, "inheritance": "autosomal-dominant", "description": "SOX5'in işlevsel bir kopyasının kaybıyla ortaya çıkan bir bozukluktur. Bu kayıp, genin tamamını ya da bir bölümünü kaldıran 12p12 delesyonu veya gen içindeki bir dizi varyantı yoluyla oluşur. Vakaların çoğu de novo gelişir.", "management": "Gelişimsel, konuşma ve eğitimsel destek ile göz, omurga ve davranışsal değerlendirme gerekir; nöbetler görüldüğünde genellikle tedaviye iyi yanıt verir. Vakaların çoğu de novo gelişir, ancak ebeveynlerden biri değişikliği taşıyor olabilir; bazen yalnızca bazı hücrelerinde. Bu nedenle, varyant yeni görünse bile tekrarlama riskini belirlemede genetik danışmanlık ve ebeveyn testleri yol gösterici olur.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/lamb-shaffer-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-brain-morphology", "name": "Abnormal shape of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-brain-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": "abnormality-of-the-genital-system", "name": "Abnormality of the reproductive system", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-genital-system" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "hyperplasia-of-the-maxilla", "name": "Big maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperplasia-of-the-maxilla" }, { "slug": "bulbous-nose", "name": "Bulbous nose", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/bulbous-nose" }, { "slug": "butterfly-vertebrae", "name": "Butterfly vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/butterfly-vertebrae" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "cutaneous-melanoma", "name": "Cutaneous melanoma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutaneous-melanoma" }, { "slug": "exaggerated-median-tongue-furrow", "name": "Deep central lingual groove", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exaggerated-median-tongue-furrow" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-planus" }, { "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" ], "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "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": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "subcutaneous-nodule", "name": "Firm lump under the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subcutaneous-nodule" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "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" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hypophosphatemic-rickets", "name": "Hypophosphatemic rickets", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypophosphatemic-rickets" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "anhidrosis", "name": "Lack of sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anhidrosis" }, { "slug": "long-hallux", "name": "Long big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-hallux" }, { "slug": "long-fingers", "name": "Long fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-fingers" }, { "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" ], "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "nevus", "name": "Mole", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nevus" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "narrow-palate", "name": "Narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-palate" }, { "slug": "neurodevelopmental-delay", "name": "Neurodevelopmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neurodevelopmental-delay" }, { "slug": "open-mouth", "name": "Open mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/open-mouth" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "overlapping-toe", "name": "Overlapping toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/overlapping-toe" }, { "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": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "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": "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": "motor-stereotypy", "name": "Repetitive movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-stereotypy" }, { "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": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "self-injurious-behavior", "name": "Self-injurious behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/self-injurious-behavior" }, { "slug": "thoracic-kyphoscoliosis", "name": "Thoracic kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thoracic-kyphoscoliosis" }, { "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": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "vertebral-clefting", "name": "Vertebral clefting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vertebral-clefting" }, { "slug": "vertebral-fusion", "name": "Vertebral fusion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vertebral-fusion" }, { "slug": "2-3-toe-syndactyly", "name": "Webbed 2nd and 3rd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/2-3-toe-syndactyly" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/wide-nasal-bridge" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }