{ "url": "https://dantelabs.com/es/genes/syce1", "gene": { "slug": "syce1", "symbol": "SYCE1", "name": "synaptonemal complex central element protein 1", "hgnc": "HGNC:28852", "summary": null, "location": "10q26.3", "locusType": "gene with protein product", "aliases": [ "bA108K14.6", "CT76" ], "previousSymbols": [ "C10orf94" ], "ensemblId": "ENSG00000171772", "entrezId": 93426, "omim": [ "611486" ], "uniprot": [ "Q8N0S2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 133554847, "end": 133565583, "strand": "-", "ensemblTranscript": "ENST00000343131.7", "refseqTranscript": "NM_001143764.3", "ensemblProtein": "ENSP00000341282.5", "refseqProtein": "NP_001137236.1", "exons": [ { "start": 133554847, "end": 133555129 }, { "start": 133555351, "end": 133555438 }, { "start": 133555597, "end": 133555707 }, { "start": 133555780, "end": 133555903 }, { "start": 133555981, "end": 133556047 }, { "start": 133556759, "end": 133556822 }, { "start": 133557067, "end": 133557156 }, { "start": 133557864, "end": 133557918 }, { "start": 133558167, "end": 133558214 }, { "start": 133558877, "end": 133558951 }, { "start": 133559301, "end": 133559360 }, { "start": 133560091, "end": 133560153 }, { "start": 133565457, "end": 133565583 } ], "cds": { "start": 133554992, "end": 133565529 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 135367404, "end": 135382876, "strand": "-" }, "neighbourhood": { "release": "116", "start": 133060215, "end": 134060214, "genes": [ { "symbol": "ADGRA1", "ensemblId": "ENSG00000197177", "biotype": "protein_coding", "start": 133087814, "end": 133131675, "strand": "+", "slug": "adgra1" }, { "symbol": "KNDC1", "ensemblId": "ENSG00000171798", "biotype": "protein_coding", "start": 133159991, "end": 133226412, "strand": "+", "slug": "kndc1" }, { "symbol": "UTF1", "ensemblId": "ENSG00000171794", "biotype": "protein_coding", "start": 133229352, "end": 133231558, "strand": "+", "slug": "utf1" }, { "symbol": "VENTX", "ensemblId": "ENSG00000151650", "biotype": "protein_coding", "start": 133235769, "end": 133241929, "strand": "+", "slug": "ventx" }, { "symbol": "ADAM8", "ensemblId": "ENSG00000151651", "biotype": "protein_coding", "start": 133262416, "end": 133276909, "strand": "-", "slug": "adam8" }, { "symbol": "TUBGCP2", "ensemblId": "ENSG00000130640", "biotype": "protein_coding", "start": 133278635, "end": 133318823, "strand": "-", "slug": "tubgcp2" }, { "symbol": "ZNF511", "ensemblId": "ENSG00000198546", "biotype": "protein_coding", "start": 133308885, "end": 133313163, "strand": "+", "slug": "znf511" }, { "symbol": "ZNF511-PRAP1", "ensemblId": "ENSG00000283496", "biotype": "protein_coding", "start": 133309410, "end": 133352529, "strand": "+", "slug": "znf511-prap1" }, { "symbol": "CALY", "ensemblId": "ENSG00000130643", "biotype": "protein_coding", "start": 133324072, "end": 133336980, "strand": "-", "slug": "caly" }, { "symbol": "PRAP1", "ensemblId": "ENSG00000165828", "biotype": "protein_coding", "start": 133347147, "end": 133354013, "strand": "+", "slug": "prap1" }, { "symbol": "FUOM", "ensemblId": "ENSG00000148803", "biotype": "protein_coding", "start": 133353952, "end": 133358796, "strand": "-", "slug": "fuom" }, { "symbol": "ECHS1", "ensemblId": "ENSG00000127884", "biotype": "protein_coding", "start": 133362368, "end": 133373714, "strand": "-", "slug": "echs1" }, { "symbol": "PAOX", "ensemblId": "ENSG00000148832", "biotype": "protein_coding", "start": 133378961, "end": 133393943, "strand": "+", "slug": "paox" }, { "symbol": "", "ensemblId": "ENSG00000254536", "biotype": "protein_coding", "start": 133380017, "end": 133420271, "strand": "+" }, { "symbol": "MTG1", "ensemblId": "ENSG00000148824", "biotype": "protein_coding", "start": 133394071, "end": 133422765, "strand": "+", "slug": "mtg1" }, { "symbol": "SPRN", "ensemblId": "ENSG00000203772", "biotype": "protein_coding", "start": 133420666, "end": 133424625, "strand": "-", "slug": "sprn" }, { "symbol": "SCART1", "ensemblId": "ENSG00000214279", "biotype": "protein_coding", "start": 133453928, "end": 133523558, "strand": "+", "slug": "scart1" }, { "symbol": "CYP2E1", "ensemblId": "ENSG00000130649", "biotype": "protein_coding", "start": 133520406, "end": 133561220, "strand": "+", "slug": "cyp2e1" }, { "symbol": "FRG2B", "ensemblId": "ENSG00000225899", "biotype": "protein_coding", "start": 133623895, "end": 133626795, "strand": "-", "slug": "frg2b" } ], "truncated": false }, "reports": [ { "slug": "female-infertility", "name": "Infertilidad femenina", "diseases": [ { "mondoId": "MONDO:1060214", "name": "Fallo gametogénico relacionado con SYCE1", "genes": 1, "inheritance": "autosomal-recessive", "description": "Enfermedad recesiva causada por variantes bialélicas en SYCE1 que provoca azoospermia en los hombres e insuficiencia ovárica primaria en las mujeres.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0021124", "name": "Infertilidad femenina", "genes": 37, "inheritance": null, "description": "Capacidad disminuida o ausente de una mujer para lograr la concepción.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/female-infertility" }, { "slug": "male-infertility", "name": "Infertilidad masculina", "diseases": [ { "mondoId": "MONDO:1060214", "name": "Fallo gametogénico relacionado con SYCE1", "genes": 1, "inheritance": "autosomal-recessive", "description": "Enfermedad recesiva causada por variantes bialélicas en SYCE1 que provoca azoospermia en hombres e insuficiencia ovárica primaria en mujeres.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0005372", "name": "Infertilidad masculina", "genes": 41, "inheritance": null, "description": "Incapacidad del varón para lograr la fecundación de un óvulo tras un periodo determinado de relaciones sexuales sin protección. La esterilidad masculina es una infertilidad permanente.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/male-infertility" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-spermatogenesis", "name": "Abnormal sperm development", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-spermatogenesis" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "azoospermia", "name": "Absent sperm in semen", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/azoospermia" }, { "slug": "decreased-testicular-size", "name": "Decreased testicular size", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-testicular-size" }, { "slug": "increased-circulating-gonadotropin-level", "name": "Increased circulating gonadotropin level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level" }, { "slug": "macular-dystrophy", "name": "Macular dystrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/macular-dystrophy" }, { "slug": "male-infertility", "name": "Male infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/male-infertility" }, { "slug": "non-obstructive-azoospermia", "name": "Non-obstructive azoospermia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/non-obstructive-azoospermia" }, { "slug": "obstructive-azoospermia", "name": "Obstructive azoospermia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/obstructive-azoospermia" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "slug": "spermatogenesis-maturation-arrest", "name": "Spermatogenesis maturation arrest", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spermatogenesis-maturation-arrest" } ], "related": [ { "slug": "fancm", "symbol": "FANCM", "name": "FA complementation group M", "shared": 2, "url": "https://dantelabs.com/es/genes/fancm" }, { "slug": "meiob", "symbol": "MEIOB", "name": "meiosis specific with OB-fold", "shared": 2, "url": "https://dantelabs.com/es/genes/meiob" }, { "slug": "sohlh1", "symbol": "SOHLH1", "name": "spermatogenesis and oogenesis specific basic helix-loop-helix 1", "shared": 2, "url": "https://dantelabs.com/es/genes/sohlh1" }, { "slug": "stag3", "symbol": "STAG3", "name": "STAG3 cohesin complex component", "shared": 2, "url": "https://dantelabs.com/es/genes/stag3" }, { "slug": "actl9", "symbol": "ACTL9", "name": "actin like 9", "shared": 1, "url": "https://dantelabs.com/es/genes/actl9" }, { "slug": "ankrd31", "symbol": "ANKRD31", "name": "ankyrin repeat domain 31", "shared": 1, "url": "https://dantelabs.com/es/genes/ankrd31" }, { "slug": "armc2", "symbol": "ARMC2", "name": "armadillo repeat containing 2", "shared": 1, "url": "https://dantelabs.com/es/genes/armc2" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/es/genes/atm" }, { "slug": "aurkc", "symbol": "AURKC", "name": "aurora kinase C", "shared": 1, "url": "https://dantelabs.com/es/genes/aurkc" }, { "slug": "bcorl1", "symbol": "BCORL1", "name": "BCL6 corepressor like 1", "shared": 1, "url": "https://dantelabs.com/es/genes/bcorl1" }, { "slug": "bmp15", "symbol": "BMP15", "name": "bone morphogenetic protein 15", "shared": 1, "url": "https://dantelabs.com/es/genes/bmp15" }, { "slug": "bnc1", "symbol": "BNC1", "name": "basonuclin zinc finger protein 1", "shared": 1, "url": "https://dantelabs.com/es/genes/bnc1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }