{ "url": "https://dantelabs.com/fr/genes/rspo1", "gene": { "slug": "rspo1", "symbol": "RSPO1", "name": "R-spondin 1", "hgnc": "HGNC:21679", "summary": null, "location": "1p34.3", "locusType": "gene with protein product", "aliases": [ "FLJ40906", "RSPONDIN" ], "previousSymbols": [], "ensemblId": "ENSG00000169218", "entrezId": 284654, "omim": [ "609595" ], "uniprot": [ "Q2MKA7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 37611350, "end": 37634892, "strand": "-", "ensemblTranscript": "ENST00000356545.7", "refseqTranscript": "NM_001242908.2", "ensemblProtein": "ENSP00000348944.2", "refseqProtein": "NP_001229837.1", "exons": [ { "start": 37611350, "end": 37612921 }, { "start": 37613704, "end": 37613892 }, { "start": 37614184, "end": 37614333 }, { "start": 37616484, "end": 37616675 }, { "start": 37629568, "end": 37629949 }, { "start": 37632287, "end": 37632353 }, { "start": 37634566, "end": 37634892 } ], "cds": { "start": 37612755, "end": 37629661 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 38076951, "end": 38100595, "strand": "-" }, "neighbourhood": { "release": "116", "start": 37123121, "end": 38123120, "genes": [ { "symbol": "ZC3H12A", "ensemblId": "ENSG00000163874", "biotype": "protein_coding", "start": 37474496, "end": 37484379, "strand": "+", "slug": "zc3h12a" }, { "symbol": "MEAF6", "ensemblId": "ENSG00000163875", "biotype": "protein_coding", "start": 37489993, "end": 37515100, "strand": "-", "slug": "meaf6" }, { "symbol": "SNIP1", "ensemblId": "ENSG00000163877", "biotype": "protein_coding", "start": 37534449, "end": 37554304, "strand": "-", "slug": "snip1" }, { "symbol": "DNALI1", "ensemblId": "ENSG00000163879", "biotype": "protein_coding", "start": 37556918, "end": 37566857, "strand": "+", "slug": "dnali1" }, { "symbol": "GNL2", "ensemblId": "ENSG00000134697", "biotype": "protein_coding", "start": 37565881, "end": 37595955, "strand": "-", "slug": "gnl2" }, { "symbol": "AIRIM", "ensemblId": "ENSG00000116922", "biotype": "protein_coding", "start": 37681570, "end": 37692296, "strand": "-", "slug": "airim" }, { "symbol": "CDCA8", "ensemblId": "ENSG00000134690", "biotype": "protein_coding", "start": 37692473, "end": 37709719, "strand": "+", "slug": "cdca8" }, { "symbol": "EPHA10", "ensemblId": "ENSG00000183317", "biotype": "protein_coding", "start": 37713880, "end": 37765155, "strand": "-", "slug": "epha10" }, { "symbol": "MANEAL", "ensemblId": "ENSG00000185090", "biotype": "protein_coding", "start": 37793788, "end": 37804745, "strand": "+", "slug": "maneal" }, { "symbol": "YRDC", "ensemblId": "ENSG00000196449", "biotype": "protein_coding", "start": 37802945, "end": 37808216, "strand": "-", "slug": "yrdc" }, { "symbol": "C1orf122", "ensemblId": "ENSG00000197982", "biotype": "protein_coding", "start": 37806979, "end": 37809886, "strand": "+", "slug": "c1orf122" }, { "symbol": "MTF1", "ensemblId": "ENSG00000188786", "biotype": "protein_coding", "start": 37809574, "end": 37859614, "strand": "-", "slug": "mtf1" }, { "symbol": "INPP5B", "ensemblId": "ENSG00000204084", "biotype": "protein_coding", "start": 37860696, "end": 37947241, "strand": "-", "slug": "inpp5b" }, { "symbol": "SF3A3", "ensemblId": "ENSG00000183431", "biotype": "protein_coding", "start": 37956975, "end": 37990681, "strand": "-", "slug": "sf3a3" }, { "symbol": "FHL3", "ensemblId": "ENSG00000183386", "biotype": "protein_coding", "start": 37994394, "end": 38006380, "strand": "-", "slug": "fhl3" }, { "symbol": "UTP11", "ensemblId": "ENSG00000183520", "biotype": "protein_coding", "start": 38009111, "end": 38024828, "strand": "+", "slug": "utp11" }, { "symbol": "POU3F1", "ensemblId": "ENSG00000185668", "biotype": "protein_coding", "start": 38043829, "end": 38046793, "strand": "-", "slug": "pou3f1" } ], "truncated": false }, "reports": [ { "slug": "46-xx-differences-of-sex-development", "name": "Différences du développement sexuel 46,XX", "diseases": [ { "mondoId": "MONDO:0017576", "name": "Différences du développement sexuel 46,XX", "genes": 4, "inheritance": null, "description": "Affections comprenant les différences du développement sexuel testiculaires et ovotesticulaires XX, le plus souvent causées par un gène SRY transloqué ou par des modifications de SOX9 ou SOX3, et plus rarement par des variants de NR5A1, RSPO1 ou WNT4.", "management": "Le diagnostic explique l'azoospermie, guide la prise en charge hormonale et, dans les maladies liées à RSPO1, justifie une surveillance du cancer de la peau.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/46-xx-differences-of-sex-development" }, { "slug": "hereditary-palmoplantar-keratodermas", "name": "Kératodermies palmoplantaires héréditaires et pachyonychie congénitale", "diseases": [ { "mondoId": "MONDO:0019272", "name": "Kératodermie palmoplantaire héréditaire", "genes": 35, "inheritance": null, "description": "Épaississement héréditaire des paumes et des plantes, incluant la pachyonychie congénitale, la maladie de Meleda, les kératodermies de type Nagashima et de type bothnien, le syndrome kératite-ichtyose-surdité, ainsi que les syndromes de Papillon-Lefèvre et de Haim-Munk liés à CTSC.", "management": "Le diagnostic oriente les soins des pieds et la prise en charge de la douleur ; pour les formes liées à CTSC, un traitement dentaire précoce permet de protéger les dents, et pour les formes liées à GJB2, un contrôle de l'audition est recommandé.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/hereditary-palmoplantar-keratodermas" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ambiguous-genitalia", "name": "Ambiguous external genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ambiguous-genitalia" }, { "slug": "carcinoma", "name": "Carcinoma", "systems": [ "neoplasm" ], "url": "https://dantelabs.com/traits/carcinoma" }, { "slug": "decreased-testicular-size", "name": "Decreased testicular size", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/decreased-testicular-size" }, { "slug": "premature-loss-of-permanent-teeth", "name": "Early loss of adult teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/premature-loss-of-permanent-teeth" }, { "slug": "hypercholesterolemia", "name": "Elevated serum cholesterol", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypercholesterolemia" }, { "slug": "clitoral-hypertrophy", "name": "Enlarged clitoris", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/clitoral-hypertrophy" }, { "slug": "gynecomastia", "name": "Enlarged male breast", "systems": [ "abnormality-of-the-breast" ], "url": "https://dantelabs.com/traits/gynecomastia" }, { "slug": "palmoplantar-hyperhidrosis", "name": "Excessive sweating of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/palmoplantar-hyperhidrosis" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "laryngeal-carcinoma", "name": "Laryngeal carcinoma", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "url": "https://dantelabs.com/traits/laryngeal-carcinoma" }, { "slug": "orthokeratotic-hyperkeratosis", "name": "Orthokeratotic hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/orthokeratotic-hyperkeratosis" }, { "slug": "ovotestis", "name": "Ovotestis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ovotestis" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "sclerodactyly", "name": "Sclerodactyly", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sclerodactyly" }, { "slug": "sex-reversal", "name": "Sex reversal", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sex-reversal" }, { "slug": "small-nail", "name": "Small nail", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/small-nail" }, { "slug": "squamous-cell-carcinoma-of-the-skin", "name": "Squamous cell carcinoma of the skin", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/squamous-cell-carcinoma-of-the-skin" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" }, { "slug": "external-genital-hypoplasia", "name": "Underdevelopment of external reproductive organs", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/external-genital-hypoplasia" } ], "related": [ { "slug": "aagab", "symbol": "AAGAB", "name": "alpha and gamma adaptin binding protein", "shared": 1, "url": "https://dantelabs.com/fr/genes/aagab" }, { "slug": "ap1b1", "symbol": "AP1B1", "name": "adaptor related protein complex 1 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/ap1b1" }, { "slug": "aqp5", "symbol": "AQP5", "name": "aquaporin 5", "shared": 1, "url": "https://dantelabs.com/fr/genes/aqp5" }, { "slug": "ctsc", "symbol": "CTSC", "name": "cathepsin C", "shared": 1, "url": "https://dantelabs.com/fr/genes/ctsc" }, { "slug": "dsg1", "symbol": "DSG1", "name": "desmoglein 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/dsg1" }, { "slug": "dsp", "symbol": "DSP", "name": "desmoplakin", "shared": 1, "url": "https://dantelabs.com/fr/genes/dsp" }, { "slug": "gja1", "symbol": "GJA1", "name": "gap junction protein alpha 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/gja1" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/gjb2" }, { "slug": "gjb3", "symbol": "GJB3", "name": "gap junction protein beta 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/gjb3" }, { "slug": "gjb4", "symbol": "GJB4", "name": "gap junction protein beta 4", "shared": 1, "url": "https://dantelabs.com/fr/genes/gjb4" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 1, "url": "https://dantelabs.com/fr/genes/gjb6" }, { "slug": "grhl2", "symbol": "GRHL2", "name": "grainyhead like transcription factor 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/grhl2" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }