{ "url": "https://dantelabs.com/nl/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": "46,XX-geslachtsontwikkelingsstoornissen", "diseases": [ { "mondoId": "MONDO:0017576", "name": "46,XX-geslachtsontwikkelingsstoornissen", "genes": 4, "inheritance": null, "description": "Aandoeningen waaronder XX-testiculaire en ovotesticulaire geslachtsontwikkelingsstoornissen, meestal veroorzaakt door een getransloceerd SRY-gen of veranderingen bij SOX9 of SOX3, en minder vaak door varianten in NR5A1, RSPO1 of WNT4.", "management": "Een diagnose verklaart azoöspermie, helpt bij de hormoonbehandeling en leidt er bij RSPO1-gerelateerde aandoeningen toe dat u wordt gecontroleerd op huidkanker.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/46-xx-differences-of-sex-development" }, { "slug": "hereditary-palmoplantar-keratodermas", "name": "Erfelijke palmoplantaire keratodermieën en pachyonychia congenita", "diseases": [ { "mondoId": "MONDO:0019272", "name": "Erfelijke palmoplantaire keratodermie", "genes": 35, "inheritance": null, "description": "Erfelijke verdikking van de handpalmen en voetzolen, waaronder pachyonychia congenita, mal de Meleda, keratodermie van het Nagashima-type en Bothnische keratodermie, het keratitis-ichthyosis-doofheidssyndroom, en de met CTSC samenhangende Papillon-Lefèvre- en Haim-Munk-syndromen.", "management": "Een diagnose helpt bij de verzorging van de voeten en de behandeling van pijn; bij de met CTSC samenhangende vormen beschermt vroege tandheelkundige behandeling de tanden, en bij de met GJB2 samenhangende vormen is een gehoorcontrole aan te raden.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/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/nl/genes/aagab" }, { "slug": "ap1b1", "symbol": "AP1B1", "name": "adaptor related protein complex 1 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/ap1b1" }, { "slug": "aqp5", "symbol": "AQP5", "name": "aquaporin 5", "shared": 1, "url": "https://dantelabs.com/nl/genes/aqp5" }, { "slug": "ctsc", "symbol": "CTSC", "name": "cathepsin C", "shared": 1, "url": "https://dantelabs.com/nl/genes/ctsc" }, { "slug": "dsg1", "symbol": "DSG1", "name": "desmoglein 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/dsg1" }, { "slug": "dsp", "symbol": "DSP", "name": "desmoplakin", "shared": 1, "url": "https://dantelabs.com/nl/genes/dsp" }, { "slug": "gja1", "symbol": "GJA1", "name": "gap junction protein alpha 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/gja1" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/gjb2" }, { "slug": "gjb3", "symbol": "GJB3", "name": "gap junction protein beta 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/gjb3" }, { "slug": "gjb4", "symbol": "GJB4", "name": "gap junction protein beta 4", "shared": 1, "url": "https://dantelabs.com/nl/genes/gjb4" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 1, "url": "https://dantelabs.com/nl/genes/gjb6" }, { "slug": "grhl2", "symbol": "GRHL2", "name": "grainyhead like transcription factor 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/grhl2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }