{ "url": "https://dantelabs.com/fr/genes/bloc1s3", "gene": { "slug": "bloc1s3", "symbol": "BLOC1S3", "name": "biogenesis of lysosomal organelles complex 1 subunit 3", "hgnc": "HGNC:20914", "summary": null, "location": "19q13.32", "locusType": "gene with protein product", "aliases": [ "BLOS3", "HPS8" ], "previousSymbols": [], "ensemblId": "ENSG00000189114", "entrezId": 388552, "omim": [ "609762" ], "uniprot": [ "Q6QNY0" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 45178784, "end": 45181800, "strand": "+", "ensemblTranscript": "ENST00000433642.3", "refseqTranscript": "NM_212550.5", "ensemblProtein": "ENSP00000393840.1", "refseqProtein": "NP_997715.1", "exons": [ { "start": 45178784, "end": 45178831 }, { "start": 45179288, "end": 45181800 } ], "cds": { "start": 45179297, "end": 45179905 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 45682003, "end": 45685059, "strand": "+" }, "neighbourhood": { "release": "116", "start": 44680292, "end": 45680291, "genes": [ { "symbol": "CEACAM19", "ensemblId": "ENSG00000186567", "biotype": "protein_coding", "start": 44662278, "end": 44684370, "strand": "+", "slug": "ceacam19" }, { "symbol": "CEACAM16", "ensemblId": "ENSG00000213892", "biotype": "protein_coding", "start": 44699151, "end": 44710718, "strand": "+", "slug": "ceacam16" }, { "symbol": "BCL3", "ensemblId": "ENSG00000069399", "biotype": "protein_coding", "start": 44747705, "end": 44760044, "strand": "+", "slug": "bcl3" }, { "symbol": "CBLC", "ensemblId": "ENSG00000142273", "biotype": "protein_coding", "start": 44777845, "end": 44802301, "strand": "+", "slug": "cblc" }, { "symbol": "BCAM", "ensemblId": "ENSG00000187244", "biotype": "protein_coding", "start": 44809040, "end": 44821421, "strand": "+", "slug": "bcam" }, { "symbol": "NECTIN2", "ensemblId": "ENSG00000130202", "biotype": "protein_coding", "start": 44846175, "end": 44890134, "strand": "+", "slug": "nectin2" }, { "symbol": "TOMM40", "ensemblId": "ENSG00000130204", "biotype": "protein_coding", "start": 44890569, "end": 44903695, "strand": "+", "slug": "tomm40" }, { "symbol": "APOE", "ensemblId": "ENSG00000130203", "biotype": "protein_coding", "start": 44903787, "end": 44909396, "strand": "+", "slug": "apoe" }, { "symbol": "APOC1", "ensemblId": "ENSG00000130208", "biotype": "protein_coding", "start": 44913133, "end": 44920054, "strand": "+", "slug": "apoc1" }, { "symbol": "APOC2", "ensemblId": "ENSG00000234906", "biotype": "protein_coding", "start": 44936126, "end": 44949585, "strand": "+", "slug": "apoc2" }, { "symbol": "APOC4", "ensemblId": "ENSG00000267467", "biotype": "protein_coding", "start": 44942234, "end": 44945496, "strand": "+", "slug": "apoc4" }, { "symbol": "APOC4-APOC2", "ensemblId": "ENSG00000224916", "biotype": "protein_coding", "start": 44942238, "end": 44949565, "strand": "+", "slug": "apoc4-apoc2" }, { "symbol": "CLPTM1", "ensemblId": "ENSG00000104853", "biotype": "protein_coding", "start": 44954585, "end": 44993342, "strand": "+", "slug": "clptm1" }, { "symbol": "RELB", "ensemblId": "ENSG00000104856", "biotype": "protein_coding", "start": 45001431, "end": 45038194, "strand": "+", "slug": "relb" }, { "symbol": "CLASRP", "ensemblId": "ENSG00000104859", "biotype": "protein_coding", "start": 45039042, "end": 45070956, "strand": "+", "slug": "clasrp" }, { "symbol": "ZNF296", "ensemblId": "ENSG00000170684", "biotype": "protein_coding", "start": 45071500, "end": 45076485, "strand": "-", "slug": "znf296" }, { "symbol": "GEMIN7", "ensemblId": "ENSG00000142252", "biotype": "protein_coding", "start": 45075575, "end": 45091518, "strand": "+", "slug": "gemin7" }, { "symbol": "MARK4", "ensemblId": "ENSG00000007047", "biotype": "protein_coding", "start": 45079288, "end": 45305284, "strand": "+", "slug": "mark4" }, { "symbol": "PPP1R37", "ensemblId": "ENSG00000104866", "biotype": "protein_coding", "start": 45091396, "end": 45148077, "strand": "+", "slug": "ppp1r37" }, { "symbol": "NKPD1", "ensemblId": "ENSG00000179846", "biotype": "protein_coding", "start": 45149744, "end": 45160982, "strand": "-", "slug": "nkpd1" }, { "symbol": "TRAPPC6A", "ensemblId": "ENSG00000007255", "biotype": "protein_coding", "start": 45162928, "end": 45178268, "strand": "-", "slug": "trappc6a" }, { "symbol": "EXOC3L2", "ensemblId": "ENSG00000283632", "biotype": "protein_coding", "start": 45210600, "end": 45245429, "strand": "-", "slug": "exoc3l2" }, { "symbol": "CKM", "ensemblId": "ENSG00000104879", "biotype": "protein_coding", "start": 45306411, "end": 45323372, "strand": "-", "slug": "ckm" }, { "symbol": "KLC3", "ensemblId": "ENSG00000104892", "biotype": "protein_coding", "start": 45333434, "end": 45351537, "strand": "+", "slug": "klc3" }, { "symbol": "ERCC2", "ensemblId": "ENSG00000104884", "biotype": "protein_coding", "start": 45349773, "end": 45370918, "strand": "-", "slug": "ercc2" }, { "symbol": "PPP1R13L", "ensemblId": "ENSG00000104881", "biotype": "protein_coding", "start": 45379634, "end": 45406367, "strand": "-", "slug": "ppp1r13l" }, { "symbol": "POLR1G", "ensemblId": "ENSG00000117877", "biotype": "protein_coding", "start": 45406644, "end": 45410737, "strand": "+", "slug": "polr1g" }, { "symbol": "ERCC1", "ensemblId": "ENSG00000012061", "biotype": "protein_coding", "start": 45407333, "end": 45479055, "strand": "-", "slug": "ercc1" }, { "symbol": "FOSB", "ensemblId": "ENSG00000125740", "biotype": "protein_coding", "start": 45467989, "end": 45475179, "strand": "+", "slug": "fosb" }, { "symbol": "RTN2", "ensemblId": "ENSG00000125744", "biotype": "protein_coding", "start": 45485292, "end": 45497055, "strand": "-", "slug": "rtn2" }, { "symbol": "PPM1N", "ensemblId": "ENSG00000213889", "biotype": "protein_coding", "start": 45488777, "end": 45503129, "strand": "+", "slug": "ppm1n" }, { "symbol": "VASP", "ensemblId": "ENSG00000125753", "biotype": "protein_coding", "start": 45506579, "end": 45527839, "strand": "+", "slug": "vasp" }, { "symbol": "OPA3", "ensemblId": "ENSG00000125741", "biotype": "protein_coding", "start": 45527767, "end": 45602212, "strand": "-", "slug": "opa3" }, { "symbol": "GPR4", "ensemblId": "ENSG00000177464", "biotype": "protein_coding", "start": 45588565, "end": 45602556, "strand": "-", "slug": "gpr4" }, { "symbol": "EML2", "ensemblId": "ENSG00000125746", "biotype": "protein_coding", "start": 45606994, "end": 45645617, "strand": "-", "slug": "eml2" }, { "symbol": "GIPR", "ensemblId": "ENSG00000010310", "biotype": "protein_coding", "start": 45668207, "end": 45683722, "strand": "+", "slug": "gipr" }, { "symbol": "SNRPD2", "ensemblId": "ENSG00000125743", "biotype": "protein_coding", "start": 45677907, "end": 45692569, "strand": "-", "slug": "snrpd2" } ], "truncated": false }, "reports": [ { "slug": "hermansky-pudlak-syndrome", "name": "Syndrome d'Hermansky-Pudlak", "diseases": [ { "mondoId": "MONDO:0019312", "name": "Syndrome d'Hermansky-Pudlak", "genes": 11, "inheritance": "autosomal-recessive", "description": "Le syndrome d'Hermansky-Pudlak (HSP) est une affection multisystémique caractérisée par un albinisme oculo-cutané, une diathèse hémorragique et, dans certains cas, une neutropénie, une fibrose pulmonaire ou une colite granulomateuse. Le HPS regroupe huit formes connues (HPS-1 à HPS-8), dont la majorité présente le même phénotype clinique à des degrés de gravité variables.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/hermansky-pudlak-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "menorrhagia", "name": "Abnormally heavy bleeding during menstruation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/menorrhagia" }, { "slug": "ocular-albinism", "name": "Absent pigmentation in the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ocular-albinism" }, { "slug": "albinism", "name": "Albinism", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/albinism" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "gingival-bleeding", "name": "Bleeding gums", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/gingival-bleeding" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "blue-irides", "name": "Blue eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blue-irides" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/myopia" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "excessive-bleeding-after-a-venipuncture", "name": "Excessive bleeding after a venipuncture", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/excessive-bleeding-after-a-venipuncture" }, { "slug": "excessive-bleeding-from-superficial-cuts", "name": "Excessive bleeding from superficial cuts", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/excessive-bleeding-from-superficial-cuts" }, { "slug": "generalized-hypopigmentation", "name": "Fair skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypopigmentation" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "hypoplasia-of-the-fovea", "name": "Hypoplasia of the fovea", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea" }, { "slug": "impaired-platelet-aggregation", "name": "Impaired platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-platelet-aggregation" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "esotropia", "name": "Inward turning cross eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/esotropia" }, { "slug": "iris-transillumination-defect", "name": "Iris transillumination defect", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/iris-transillumination-defect" }, { "slug": "moderate-hypermetropia", "name": "Moderate hypermetropia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/moderate-hypermetropia" }, { "slug": "myopic-astigmatism", "name": "Myopic astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopic-astigmatism" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "pendular-nystagmus", "name": "Pendular nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pendular-nystagmus" }, { "slug": "high-hypermetropia", "name": "Severe farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-hypermetropia" }, { "slug": "high-myopia", "name": "Severe near sightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-myopia" }, { "slug": "silver-gray-hair", "name": "Silver-gray hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/silver-gray-hair" } ], "related": [ { "slug": "ap3b1", "symbol": "AP3B1", "name": "adaptor related protein complex 3 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/ap3b1" }, { "slug": "ap3d1", "symbol": "AP3D1", "name": "adaptor related protein complex 3 subunit delta 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/ap3d1" }, { "slug": "bloc1s5", "symbol": "BLOC1S5", "name": "biogenesis of lysosomal organelles complex 1 subunit 5", "shared": 1, "url": "https://dantelabs.com/fr/genes/bloc1s5" }, { "slug": "bloc1s6", "symbol": "BLOC1S6", "name": "biogenesis of lysosomal organelles complex 1 subunit 6", "shared": 1, "url": "https://dantelabs.com/fr/genes/bloc1s6" }, { "slug": "dtnbp1", "symbol": "DTNBP1", "name": "dystrobrevin binding protein 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/dtnbp1" }, { "slug": "hps1", "symbol": "HPS1", "name": "HPS1 biogenesis of lysosomal organelles complex 3 subunit 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/hps1" }, { "slug": "hps3", "symbol": "HPS3", "name": "HPS3 biogenesis of lysosomal organelles complex 2 subunit 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/hps3" }, { "slug": "hps4", "symbol": "HPS4", "name": "HPS4 biogenesis of lysosomal organelles complex 3 subunit 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/hps4" }, { "slug": "hps5", "symbol": "HPS5", "name": "HPS5 biogenesis of lysosomal organelles complex 2 subunit 2", "shared": 1, "url": "https://dantelabs.com/fr/genes/hps5" }, { "slug": "hps6", "symbol": "HPS6", "name": "HPS6 biogenesis of lysosomal organelles complex 2 subunit 3", "shared": 1, "url": "https://dantelabs.com/fr/genes/hps6" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }