{ "url": "https://dantelabs.com/de/genes/bloc1s6", "gene": { "slug": "bloc1s6", "symbol": "BLOC1S6", "name": "biogenesis of lysosomal organelles complex 1 subunit 6", "hgnc": "HGNC:8549", "summary": null, "location": "15q21.1", "locusType": "gene with protein product", "aliases": [ "HPS9" ], "previousSymbols": [ "PA", "PLDN" ], "ensemblId": "ENSG00000104164", "entrezId": 26258, "omim": [ "604310" ], "uniprot": [ "Q9UL45" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 45587379, "end": 45609708, "strand": "+", "ensemblTranscript": "ENST00000220531.9", "refseqTranscript": "NM_012388.4", "ensemblProtein": "ENSP00000220531.4", "refseqProtein": "NP_036520.1", "exons": [ { "start": 45587379, "end": 45587525 }, { "start": 45592135, "end": 45592276 }, { "start": 45603100, "end": 45603187 }, { "start": 45605428, "end": 45605514 }, { "start": 45606395, "end": 45609708 } ], "cds": { "start": 45587444, "end": 45606514 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 45879321, "end": 45908197, "strand": "+" }, "neighbourhood": { "release": "116", "start": 45098544, "end": 46098543, "genes": [ { "symbol": "DUOX2", "ensemblId": "ENSG00000140279", "biotype": "protein_coding", "start": 45092650, "end": 45114185, "strand": "-", "slug": "duox2" }, { "symbol": "DUOXA2", "ensemblId": "ENSG00000140274", "biotype": "protein_coding", "start": 45114325, "end": 45118421, "strand": "+", "slug": "duoxa2" }, { "symbol": "DUOXA1", "ensemblId": "ENSG00000140254", "biotype": "protein_coding", "start": 45117364, "end": 45130611, "strand": "-", "slug": "duoxa1" }, { "symbol": "DUOX1", "ensemblId": "ENSG00000137857", "biotype": "protein_coding", "start": 45129450, "end": 45165576, "strand": "+", "slug": "duox1" }, { "symbol": "SHF", "ensemblId": "ENSG00000138606", "biotype": "protein_coding", "start": 45165572, "end": 45201175, "strand": "-", "slug": "shf" }, { "symbol": "SLC28A2", "ensemblId": "ENSG00000137860", "biotype": "protein_coding", "start": 45252227, "end": 45277846, "strand": "+", "slug": "slc28a2" }, { "symbol": "GATM", "ensemblId": "ENSG00000171766", "biotype": "protein_coding", "start": 45333479, "end": 45402327, "strand": "-", "slug": "gatm" }, { "symbol": "AFG2B", "ensemblId": "ENSG00000171763", "biotype": "protein_coding", "start": 45402325, "end": 45421415, "strand": "+", "slug": "afg2b" }, { "symbol": "COXFA4L3", "ensemblId": "ENSG00000166920", "biotype": "protein_coding", "start": 45430579, "end": 45448761, "strand": "+", "slug": "coxfa4l3" }, { "symbol": "SLC30A4", "ensemblId": "ENSG00000104154", "biotype": "protein_coding", "start": 45479606, "end": 45522834, "strand": "-", "slug": "slc30a4" }, { "symbol": "", "ensemblId": "ENSG00000260170", "biotype": "protein_coding", "start": 45587351, "end": 45676314, "strand": "+" }, { "symbol": "SQOR", "ensemblId": "ENSG00000137767", "biotype": "protein_coding", "start": 45631148, "end": 45691299, "strand": "+", "slug": "sqor" } ], "truncated": false }, "reports": [ { "slug": "hermansky-pudlak-syndrome", "name": "Hermansky-Pudlak-Syndrom", "diseases": [ { "mondoId": "MONDO:0019312", "name": "Hermansky-Pudlak-Syndrom", "genes": 11, "inheritance": "autosomal-recessive", "description": "Das Hermansky-Pudlak-Syndrom (HPS) ist eine Multisystemerkrankung, die durch okulokutanen Albinismus, eine erhöhte Blutungsneigung und in einigen Fällen durch Neutropenie, Lungenfibrose oder granulomatöse Kolitis gekennzeichnet ist. Das HPS umfasst acht bekannte Formen (HPS-1 bis HPS-8), von denen die meisten ein ähnliches klinisches Erscheinungsbild mit unterschiedlichen Schweregraden aufweisen.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/de/conditions/hermansky-pudlak-syndrome" }, { "slug": "immunodeficiency-disease", "name": "Sonstige angeborene Immundefekte", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Inborn error of immunity", "genes": 114, "inheritance": null, "description": "Erbliche Störungen des Immunsystems, die durch Veränderungen einzelner Gene verursacht werden und beeinflussen, wie der Körper Infektionen abwehrt oder Entzündungen reguliert.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "ocular-albinism", "name": "Absent pigmentation in the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ocular-albinism" }, { "slug": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "fundus-hypopigmentation", "name": "Fundus hypopigmentation", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/fundus-hypopigmentation" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "hypopigmentation-of-the-skin", "name": "Patchy lightened skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-skin-infections" } ], "related": [ { "slug": "ap3b1", "symbol": "AP3B1", "name": "adaptor related protein complex 3 subunit beta 1", "shared": 2, "url": "https://dantelabs.com/de/genes/ap3b1" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/de/genes/adar" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/de/genes/aicda" }, { "slug": "ap3d1", "symbol": "AP3D1", "name": "adaptor related protein complex 3 subunit delta 1", "shared": 1, "url": "https://dantelabs.com/de/genes/ap3d1" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/de/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/de/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 1, "url": "https://dantelabs.com/de/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 1, "url": "https://dantelabs.com/de/genes/blnk" }, { "slug": "bloc1s3", "symbol": "BLOC1S3", "name": "biogenesis of lysosomal organelles complex 1 subunit 3", "shared": 1, "url": "https://dantelabs.com/de/genes/bloc1s3" }, { "slug": "bloc1s5", "symbol": "BLOC1S5", "name": "biogenesis of lysosomal organelles complex 1 subunit 5", "shared": 1, "url": "https://dantelabs.com/de/genes/bloc1s5" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 1, "url": "https://dantelabs.com/de/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 1, "url": "https://dantelabs.com/de/genes/c1qa" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }