{ "url": "https://dantelabs.com/et/genes/gp1ba", "gene": { "slug": "gp1ba", "symbol": "GP1BA", "name": "glycoprotein Ib platelet subunit alpha", "hgnc": "HGNC:4439", "summary": null, "location": "17p13.2", "locusType": "gene with protein product", "aliases": [ "HPA-2", "CD42b", "GPIbalpha" ], "previousSymbols": [ "GP1B" ], "ensemblId": "ENSG00000185245", "entrezId": 2811, "omim": [ "606672" ], "uniprot": [ "P07359" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 4932277, "end": 4935023, "strand": "+", "ensemblTranscript": "ENST00000329125.6", "refseqTranscript": "NM_000173.7", "ensemblProtein": "ENSP00000329380.5", "refseqProtein": "NP_000164.5", "exons": [ { "start": 4932277, "end": 4932365 }, { "start": 4932599, "end": 4935023 } ], "cds": { "start": 4932605, "end": 4934563 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 4835592, "end": 4838325, "strand": "+" }, "neighbourhood": { "release": "116", "start": 4433650, "end": 5433649, "genes": [ { "symbol": "SPNS3", "ensemblId": "ENSG00000182557", "biotype": "protein_coding", "start": 4433940, "end": 4488208, "strand": "+", "slug": "spns3" }, { "symbol": "SPNS2", "ensemblId": "ENSG00000183018", "biotype": "protein_coding", "start": 4498839, "end": 4539036, "strand": "+", "slug": "spns2" }, { "symbol": "MYBBP1A", "ensemblId": "ENSG00000132382", "biotype": "protein_coding", "start": 4538897, "end": 4555403, "strand": "-", "slug": "mybbp1a" }, { "symbol": "GGT6", "ensemblId": "ENSG00000167741", "biotype": "protein_coding", "start": 4556342, "end": 4560818, "strand": "-", "slug": "ggt6" }, { "symbol": "SMTNL2", "ensemblId": "ENSG00000188176", "biotype": "protein_coding", "start": 4583999, "end": 4608798, "strand": "+", "slug": "smtnl2" }, { "symbol": "ALOX15", "ensemblId": "ENSG00000161905", "biotype": "protein_coding", "start": 4629736, "end": 4642294, "strand": "-", "slug": "alox15" }, { "symbol": "PELP1", "ensemblId": "ENSG00000141456", "biotype": "protein_coding", "start": 4669774, "end": 4704337, "strand": "-", "slug": "pelp1" }, { "symbol": "ARRB2", "ensemblId": "ENSG00000141480", "biotype": "protein_coding", "start": 4710393, "end": 4721500, "strand": "+", "slug": "arrb2" }, { "symbol": "MED11", "ensemblId": "ENSG00000161920", "biotype": "protein_coding", "start": 4731411, "end": 4733610, "strand": "+", "slug": "med11" }, { "symbol": "CXCL16", "ensemblId": "ENSG00000161921", "biotype": "protein_coding", "start": 4732915, "end": 4740064, "strand": "-", "slug": "cxcl16" }, { "symbol": "ZMYND15", "ensemblId": "ENSG00000141497", "biotype": "protein_coding", "start": 4739108, "end": 4746119, "strand": "+", "slug": "zmynd15" }, { "symbol": "TM4SF5", "ensemblId": "ENSG00000142484", "biotype": "protein_coding", "start": 4771835, "end": 4783220, "strand": "+", "slug": "tm4sf5" }, { "symbol": "VMO1", "ensemblId": "ENSG00000182853", "biotype": "protein_coding", "start": 4785281, "end": 4790406, "strand": "-", "slug": "vmo1" }, { "symbol": "GLTPD2", "ensemblId": "ENSG00000182327", "biotype": "protein_coding", "start": 4788927, "end": 4790734, "strand": "+", "slug": "gltpd2" }, { "symbol": "PSMB6", "ensemblId": "ENSG00000142507", "biotype": "protein_coding", "start": 4796144, "end": 4798503, "strand": "+", "slug": "psmb6" }, { "symbol": "C17orf114", "ensemblId": "ENSG00000262165", "biotype": "protein_coding", "start": 4801159, "end": 4807013, "strand": "-", "slug": "c17orf114" }, { "symbol": "PLD2", "ensemblId": "ENSG00000129219", "biotype": "protein_coding", "start": 4807074, "end": 4823434, "strand": "+", "slug": "pld2" }, { "symbol": "MINK1", "ensemblId": "ENSG00000141503", "biotype": "protein_coding", "start": 4833147, "end": 4898065, "strand": "+", "slug": "mink1" }, { "symbol": "CHRNE", "ensemblId": "ENSG00000108556", "biotype": "protein_coding", "start": 4897769, "end": 4934438, "strand": "-", "slug": "chrne" }, { "symbol": "C17orf107", "ensemblId": "ENSG00000205710", "biotype": "protein_coding", "start": 4899418, "end": 4902934, "strand": "+", "slug": "c17orf107" }, { "symbol": "SLC25A11", "ensemblId": "ENSG00000108528", "biotype": "protein_coding", "start": 4934570, "end": 4940156, "strand": "-", "slug": "slc25a11" }, { "symbol": "RNF167", "ensemblId": "ENSG00000108523", "biotype": "protein_coding", "start": 4939997, "end": 4945223, "strand": "+", "slug": "rnf167" }, { "symbol": "PFN1", "ensemblId": "ENSG00000108518", "biotype": "protein_coding", "start": 4945652, "end": 4950517, "strand": "-", "slug": "pfn1" }, { "symbol": "ENO3", "ensemblId": "ENSG00000108515", "biotype": "protein_coding", "start": 4948034, "end": 4957132, "strand": "+", "slug": "eno3" }, { "symbol": "SPAG7", "ensemblId": "ENSG00000091640", "biotype": "protein_coding", "start": 4959226, "end": 4967835, "strand": "-", "slug": "spag7" }, { "symbol": "CAMTA2", "ensemblId": "ENSG00000108509", "biotype": "protein_coding", "start": 4967992, "end": 4987684, "strand": "-", "slug": "camta2" }, { "symbol": "INCA1", "ensemblId": "ENSG00000196388", "biotype": "protein_coding", "start": 4988130, "end": 4999117, "strand": "-", "slug": "inca1" }, { "symbol": "KIF1C", "ensemblId": "ENSG00000129250", "biotype": "protein_coding", "start": 4997629, "end": 5028401, "strand": "+", "slug": "kif1c" }, { "symbol": "SLC52A1", "ensemblId": "ENSG00000132517", "biotype": "protein_coding", "start": 5032600, "end": 5052009, "strand": "-", "slug": "slc52a1" }, { "symbol": "ZFP3", "ensemblId": "ENSG00000180787", "biotype": "protein_coding", "start": 5078241, "end": 5096376, "strand": "+", "slug": "zfp3" }, { "symbol": "ZNF232", "ensemblId": "ENSG00000167840", "biotype": "protein_coding", "start": 5105269, "end": 5123162, "strand": "-", "slug": "znf232" }, { "symbol": "USP6", "ensemblId": "ENSG00000129204", "biotype": "protein_coding", "start": 5116032, "end": 5175034, "strand": "+", "slug": "usp6" }, { "symbol": "ZNF594", "ensemblId": "ENSG00000180626", "biotype": "protein_coding", "start": 5174019, "end": 5191907, "strand": "-", "slug": "znf594" }, { "symbol": "SCIMP", "ensemblId": "ENSG00000161929", "biotype": "protein_coding", "start": 5208915, "end": 5234869, "strand": "-", "slug": "scimp" }, { "symbol": "RABEP1", "ensemblId": "ENSG00000029725", "biotype": "protein_coding", "start": 5282258, "end": 5386871, "strand": "+", "slug": "rabep1" }, { "symbol": "NUP88", "ensemblId": "ENSG00000108559", "biotype": "protein_coding", "start": 5359641, "end": 5420164, "strand": "-", "slug": "nup88" }, { "symbol": "RPAIN", "ensemblId": "ENSG00000129197", "biotype": "protein_coding", "start": 5419066, "end": 5432888, "strand": "+", "slug": "rpain" }, { "symbol": "C1QBP", "ensemblId": "ENSG00000108561", "biotype": "protein_coding", "start": 5432625, "end": 5448830, "strand": "-", "slug": "c1qbp" } ], "truncated": false }, "reports": [ { "slug": "hereditary-von-willebrand-disease", "name": "Pärilik von Willebrandi tõbi", "diseases": [ { "mondoId": "MONDO:0019565", "name": "Pärilik von Willebrandi tõbi", "genes": 2, "inheritance": null, "description": "Pärilik von Willebrandi tõbi (VWD) on pärilik verejooksuhäire, mis on põhjustatud geneetilisest kõrvalekaldest, mis viib Willebrandi faktori (von Willebrandi faktor; VWF) kvantitatiivsete, struktuursete või funktsionaalsete häireteni. On määratletud kaks peamist VWF-puudulikkuse rühma: kvantitatiivne ja osaline (1. tüüp) või täielik (3. tüüp), ning kvalitatiivne (2. tüüp), millel on mitu alatüüpi (2A, 2B, 2M, 2N).", "management": "1. tüüp: desmopressiin (DDAVP); 2A tüüp: DDAVP-katse või VWF-kontsentraat; 2B tüüp: VWF-kontsentraat (DDAVP on vastunäidustatud); 2M tüüp: DDAVP-katse; 2N tüüp: VWF/FVIII-kontsentraat; 3. tüüp: VWF/FVIII-kontsentraat; limaskestaverejooksu korral traneksaamhape", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/et/conditions/hereditary-von-willebrand-disease" }, { "slug": "inherited-platelet-function-disorders", "name": "Ärilised trombotsüütide funktsioonihäired", "diseases": [ { "mondoId": "MONDO:0009276", "name": "Bernard-Soulier’ sündroom", "genes": 3, "inheritance": "autosomal-recessive", "description": "Haigus, mida põhjustavad muutused geenides GP1BA, GP1BB või GP9. Trombotsüüdid on suured, nende arv on vähenenud ning nad ei suuda kahjustunud veresoontele kinnituda. Tavaliselt on tegemist retsessiivse pärandiga, kuigi esineb ka kergemaid dominantseid vorme.", "management": "Õige diagnoos väldib olukorda, kus seda eksitatakse immuunsest trombotsütopeeniast ja ravitakse põhjendamatult.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/inherited-platelet-function-disorders" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-megakaryocyte-morphology", "name": "Abnormal megakaryocyte morphology", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-megakaryocyte-morphology" }, { "slug": "metrorrhagia", "name": "Abnormal uterus bleeding", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metrorrhagia" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "menorrhagia", "name": "Abnormally heavy bleeding during menstruation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/menorrhagia" }, { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/asthma" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "melena", "name": "Black feces", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/melena" }, { "slug": "gingival-bleeding", "name": "Bleeding gums", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gingival-bleeding" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "intracranial-hemorrhage", "name": "Bleeding within the skull", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intracranial-hemorrhage" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "purpura", "name": "Blood spots", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/purpura" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "macroscopic-hematuria", "name": "Bloody urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macroscopic-hematuria" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "cephalohematoma", "name": "Cephalohematoma", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cephalohematoma" }, { "slug": "cerebral-palsy", "name": "Cerebral palsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cerebral-palsy" }, { "slug": "decreased-platelet-glycoprotein-ib-ix-v", "name": "Decreased platelet glycoprotein Ib-IX-V", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-platelet-glycoprotein-ib-ix-v" }, { "slug": "ecchymosis", "name": "Ecchymosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ecchymosis" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "giant-platelets", "name": "Giant platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/giant-platelets" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "impaired-ristocetin-induced-platelet-aggregation", "name": "Impaired ristocetin-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-ristocetin-induced-platelet-aggregation" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "intermittent-thrombocytopenia", "name": "Intermittent thrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/intermittent-thrombocytopenia" }, { "slug": "increased-mean-platelet-volume", "name": "Large platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-mean-platelet-volume" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "macrothrombocytopenia", "name": "Macrothrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrothrombocytopenia" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "neonatal-alloimmune-thrombocytopenia", "name": "Neonatal alloimmune thrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neonatal-alloimmune-thrombocytopenia" }, { "slug": "nonarteritic-anterior-ischemic-optic-neuropathy", "name": "Nonarteritic anterior ischemic optic neuropathy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/nonarteritic-anterior-ischemic-optic-neuropathy" }, { "slug": "partially-duplicated-kidney", "name": "Partially duplicated kidney", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/partially-duplicated-kidney" }, { "slug": "petechiae", "name": "Petechiae", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/petechiae" }, { "slug": "platelet-anisocytosis", "name": "Platelet anisocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/platelet-anisocytosis" }, { "slug": "prolonged-bleeding-after-dental-extraction", "name": "Prolonged bleeding after dental extraction", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction" }, { "slug": "prolonged-bleeding-after-surgery", "name": "Prolonged bleeding after surgery", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-surgery" }, { "slug": "prolonged-bleeding-time", "name": "Prolonged bleeding time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/prolonged-bleeding-time" }, { "slug": "spontaneous-recurrent-epistaxis", "name": "Recurring nosebleed", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spontaneous-recurrent-epistaxis" }, { "slug": "spontaneous-hematomas", "name": "Spontaneous hematomas", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spontaneous-hematomas" }, { "slug": "stomatocytosis", "name": "Stomatocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/stomatocytosis" }, { "slug": "subarachnoid-hemorrhage", "name": "Subarachnoid hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage" }, { "slug": "hematemesis", "name": "Vomiting blood", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hematemesis" } ], "related": [ { "slug": "gp1bb", "symbol": "GP1BB", "name": "glycoprotein Ib platelet subunit beta", "shared": 1, "url": "https://dantelabs.com/et/genes/gp1bb" }, { "slug": "gp9", "symbol": "GP9", "name": "glycoprotein IX platelet", "shared": 1, "url": "https://dantelabs.com/et/genes/gp9" }, { "slug": "vwf", "symbol": "VWF", "name": "von Willebrand factor", "shared": 1, "url": "https://dantelabs.com/et/genes/vwf" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 44, "url": "https://dantelabs.com/genes/gp1ba/variants", "items": [ { "slug": "a318pfs17", "name": "A318Pfs*17", "commonName": null, "symbol": "GP1BA", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.952del", "position": 4933555, "grch37Position": 4836850, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/gp1ba/variants/a318pfs17" }, { "slug": "c-1077del", "name": "c.1077del", "commonName": null, "symbol": "GP1BA", "classification": "likely-pathogenic", "stars": 3, "hgvsC": null, "position": 4933679, "grch37Position": 4836974, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/gp1ba/variants/c-1077del" }, { "slug": "c81r", "name": "C81R", "commonName": 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