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"ensemblId": "ENSG00000172354", "biotype": "protein_coding", "start": 100673477, "end": 100679174, "strand": "+", "slug": "gnb2" }, { "symbol": "GIGYF1", "ensemblId": "ENSG00000146830", "biotype": "protein_coding", "start": 100679505, "end": 100694481, "strand": "-", "slug": "gigyf1" }, { "symbol": "POP7", "ensemblId": "ENSG00000172336", "biotype": "protein_coding", "start": 100695902, "end": 100708628, "strand": "+", "slug": "pop7" } ], "truncated": false }, "reports": [ { "slug": "female-infertility", "name": "Infertilidade Feminina", "diseases": [ { "mondoId": "MONDO:0021124", "name": "Infertilidade Feminina", "genes": 37, "inheritance": null, "description": "Capacidade reduzida ou ausente de uma mulher para engravidar.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/female-infertility" }, { "slug": "male-infertility", "name": "Infertilidade masculina", "diseases": [ { "mondoId": "MONDO:0005372", "name": "Infertilidade masculina", "genes": 41, "inheritance": null, "description": "A incapacidade de o homem fecundar um óvulo após um período determinado de relações sexuais sem proteção. A esterilidade masculina é uma infertilidade permanente.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/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": "azoospermia", "name": "Absent sperm in semen", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/azoospermia" }, { "slug": "decreased-serum-estradiol", "name": "Decreased serum estradiol", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-serum-estradiol" }, { "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": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "slug": "elevated-circulating-follicle-stimulating-hormone-level", "name": "Elevated circulating follicle stimulating hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level" }, { "slug": "elevated-circulating-luteinizing-hormone-level", "name": "Elevated circulating luteinizing hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level" }, { "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": "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": "ovarian-neoplasm", "name": "Ovarian cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ovarian-neoplasm" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "slug": "spermatocyte-maturation-arrest", "name": "Spermatocyte maturation arrest", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spermatocyte-maturation-arrest" }, { "slug": "streak-ovary", "name": "Streak ovary", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/streak-ovary" } ], "related": [ { "slug": "fancm", "symbol": "FANCM", "name": "FA complementation group M", "shared": 2, "url": "https://dantelabs.com/pt/genes/fancm" }, { "slug": "meiob", "symbol": "MEIOB", "name": "meiosis specific with OB-fold", "shared": 2, "url": "https://dantelabs.com/pt/genes/meiob" }, { "slug": "sohlh1", "symbol": "SOHLH1", "name": "spermatogenesis and oogenesis specific basic helix-loop-helix 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/sohlh1" }, { "slug": "syce1", "symbol": "SYCE1", "name": "synaptonemal complex central element protein 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/syce1" }, { "slug": "actl9", "symbol": "ACTL9", "name": "actin like 9", "shared": 1, "url": "https://dantelabs.com/pt/genes/actl9" }, { "slug": "ankrd31", "symbol": "ANKRD31", "name": "ankyrin repeat domain 31", "shared": 1, "url": "https://dantelabs.com/pt/genes/ankrd31" }, { "slug": "armc2", "symbol": "ARMC2", "name": "armadillo repeat containing 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/armc2" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/pt/genes/atm" }, { "slug": "aurkc", "symbol": "AURKC", "name": "aurora kinase C", "shared": 1, "url": "https://dantelabs.com/pt/genes/aurkc" }, { "slug": "bcorl1", "symbol": "BCORL1", "name": "BCL6 corepressor like 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/bcorl1" }, { "slug": "bmp15", "symbol": "BMP15", "name": "bone morphogenetic protein 15", "shared": 1, "url": "https://dantelabs.com/pt/genes/bmp15" }, { "slug": "bnc1", "symbol": "BNC1", "name": "basonuclin zinc finger protein 1", "shared": 1, "url": "https://dantelabs.com/pt/genes/bnc1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }