{ "url": "https://dantelabs.com/fr/genes/nlrp5", "gene": { "slug": "nlrp5", "symbol": "NLRP5", "name": "NLR family pyrin domain containing 5", "hgnc": "HGNC:21269", "summary": null, "location": "19q13.43", "locusType": "gene with protein product", "aliases": [ "PYPAF8", "MATER", "PAN11", "CLR19.8" ], "previousSymbols": [ "NALP5" ], "ensemblId": "ENSG00000171487", "entrezId": 126206, "omim": [ "609658" ], "uniprot": [ "P59047" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 55986775, "end": 56061810, "strand": "+", "ensemblTranscript": "ENST00000850973.1", "refseqTranscript": "NM_001433705.1", "ensemblProtein": "ENSP00000521055.1", "refseqProtein": "NP_001420634.1", "exons": [ { "start": 55986775, "end": 55986821 }, { "start": 56003736, "end": 56004095 }, { "start": 56008788, "end": 56008853 }, { "start": 56015742, "end": 56015798 }, { "start": 56019342, "end": 56019398 }, { "start": 56020375, "end": 56020431 }, { "start": 56026913, "end": 56028509 }, { 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"slug": "nlrp11" }, { "symbol": "NLRP4", "ensemblId": "ENSG00000160505", "biotype": "protein_coding", "start": 55836540, "end": 55881855, "strand": "+", "slug": "nlrp4" }, { "symbol": "NLRP13", "ensemblId": "ENSG00000173572", "biotype": "protein_coding", "start": 55891699, "end": 55932336, "strand": "-", "slug": "nlrp13" }, { "symbol": "NLRP8", "ensemblId": "ENSG00000179709", "biotype": "protein_coding", "start": 55947832, "end": 55981158, "strand": "+", "slug": "nlrp8" }, { "symbol": "ZNF787", "ensemblId": "ENSG00000142409", "biotype": "protein_coding", "start": 56087366, "end": 56121534, "strand": "-", "slug": "znf787" }, { "symbol": "ZNF444", "ensemblId": "ENSG00000167685", "biotype": "protein_coding", "start": 56132599, "end": 56160897, "strand": "+", "slug": "znf444" }, { "symbol": "GALP", "ensemblId": "ENSG00000197487", "biotype": "protein_coding", "start": 56176001, "end": 56185775, "strand": "+", "slug": "galp" }, { "symbol": "ZSCAN5B", "ensemblId": "ENSG00000197213", "biotype": "protein_coding", "start": 56189686, "end": 56197815, "strand": "-", "slug": "zscan5b" }, { "symbol": "ZSCAN5C", "ensemblId": "ENSG00000204532", "biotype": "protein_coding", "start": 56202273, "end": 56209461, "strand": "+", "slug": "zscan5c" }, { "symbol": "ZSCAN5A", "ensemblId": "ENSG00000131848", "biotype": "protein_coding", "start": 56219670, "end": 56368383, "strand": "-", "slug": "zscan5a" }, { "symbol": "EDDM13", "ensemblId": "ENSG00000267710", "biotype": "protein_coding", "start": 56272735, "end": 56310454, "strand": "+", "slug": "eddm13" }, { "symbol": "ZNF582", "ensemblId": "ENSG00000018869", "biotype": "protein_coding", "start": 56375840, "end": 56393606, "strand": "-", "slug": "znf582" }, { "symbol": "ZNF583", "ensemblId": "ENSG00000198440", "biotype": "protein_coding", "start": 56397966, "end": 56436035, "strand": "+", "slug": "znf583" }, { "symbol": "ZNF667", "ensemblId": "ENSG00000198046", "biotype": "protein_coding", "start": 56438631, "end": 56478099, "strand": "-", "slug": "znf667" }, { "symbol": "ZNF471", "ensemblId": "ENSG00000196263", "biotype": "protein_coding", "start": 56507730, "end": 56530276, "strand": "+", "slug": "znf471" } ], "truncated": false }, "reports": [ { "slug": "female-infertility", "name": "Infertilité féminine", "diseases": [ { "mondoId": "MONDO:0014769", "name": "anomalie héréditaire de la maturation ovocytaire", "genes": 17, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/female-infertility" }, { "slug": "imprinting-disorders", "name": "Troubles de l'empreinte parentale : Prader-Willi, Silver-Russell et Beckwith-Wiedemann", "diseases": [ { "mondoId": "MONDO:0007534", "name": "Syndrome de Beckwith-Wiedemann", "genes": 5, "inheritance": null, "description": "Trouble de surcroissance causé par des altérations de l'empreinte en 11p15 (et parfois par des variants de CDKN1C), pouvant entraîner une taille élevée à la naissance, une langue volumineuse, des anomalies de la paroi abdominale et un risque accru de tumeurs de l'enfance, telles que la tumeur de Wilms.", "management": "Le diagnostic conduit à une surveillance tumorale pendant l'enfance, comprenant une échographie abdominale.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/imprinting-disorders" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Cardiomyopathie hypertrophique", "diseases": [ { "mondoId": "MONDO:0005045", "name": "Cardiomyopathie hypertrophique", "genes": 62, "inheritance": "autosomal-dominant", "description": "Une affection dans laquelle le myocarde est hypertrophié sans cause évidente. L'hypertrophie est généralement asymétrique et peut être associée à une obstruction de la chambre de chasse ventriculaire.", "management": "Bêtabloquants, inhibiteurs calciques non-dihydropyridiniques, restriction d'activité physique, conseil génétique", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/fr/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-meiosis", "name": "Abnormal meiosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-meiosis" }, { "slug": "abnormal-oocyte-morphology", "name": "Abnormal oocyte morphology", "systems": [ "abnormal-cellular-phenotype" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-oocyte-morphology" }, { "slug": "abnormal-spermatogenesis", "name": "Abnormal sperm development", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/abnormal-spermatogenesis" }, { "slug": "female-infertility", "name": "Female infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/female-infertility" }, { "slug": "metaphase-i-oocyte-maturation-arrest", "name": "Metaphase I oocyte maturation arrest", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/metaphase-i-oocyte-maturation-arrest" }, { "slug": "polycystic-ovaries", "name": "Polycystic ovaries", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/polycystic-ovaries" } ], "related": [ { "slug": "cdkn1c", "symbol": "CDKN1C", "name": "cyclin dependent kinase inhibitor 1C", "shared": 2, "url": "https://dantelabs.com/fr/genes/cdkn1c" }, { "slug": "h19", "symbol": "H19", "name": "H19 imprinted maternally expressed transcript", "shared": 2, "url": "https://dantelabs.com/fr/genes/h19" }, { "slug": "igf2", "symbol": "IGF2", "name": "insulin like growth factor 2", "shared": 2, "url": "https://dantelabs.com/fr/genes/igf2" }, { "slug": "nsd1", "symbol": "NSD1", "name": "nuclear receptor binding SET domain protein 1", "shared": 2, "url": "https://dantelabs.com/fr/genes/nsd1" }, { "slug": "acadvl", "symbol": "ACADVL", "name": "acyl-CoA dehydrogenase very long chain", "shared": 1, "url": "https://dantelabs.com/fr/genes/acadvl" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/actc1" }, { "slug": "alpk3", "symbol": "ALPK3", "name": "alpha kinase 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/alpk3" }, { "slug": "braf", "symbol": "BRAF", "name": "B-Raf proto-oncogene, serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/fr/genes/braf" }, { "slug": "btg4", "symbol": "BTG4", "name": "BTG anti-proliferation factor 4", "shared": 1, "url": "https://dantelabs.com/fr/genes/btg4" }, { "slug": "cdc20", "symbol": "CDC20", "name": "cell division cycle 20", "shared": 1, "url": "https://dantelabs.com/fr/genes/cdc20" }, { "slug": "csrp3", "symbol": "CSRP3", "name": "cysteine and glycine rich protein 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/csrp3" }, { "slug": "dhh", "symbol": "DHH", "name": "desert hedgehog signaling molecule", "shared": 1, "url": "https://dantelabs.com/fr/genes/dhh" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }