{ "url": "https://dantelabs.com/nl/genes/hyal1", "gene": { "slug": "hyal1", "symbol": "HYAL1", "name": "hyaluronidase 1", "hgnc": "HGNC:5320", "summary": null, "location": "3p21.31", "locusType": "gene with protein product", "aliases": [ "LUCA1", "HYAL-1" ], "previousSymbols": [], "ensemblId": "ENSG00000114378", "entrezId": 3373, "omim": [ "607071" ], "uniprot": [ "Q12794" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 50299893, "end": 50303574, "strand": "-", "ensemblTranscript": "ENST00000395144.7", "refseqTranscript": "NM_033159.4", "ensemblProtein": "ENSP00000378576.2", "refseqProtein": "NP_149349.2", "exons": [ { "start": 50299893, "end": 50300800 }, { "start": 50300988, "end": 50301077 }, { "start": 50302057, "end": 50302980 }, { "start": 50303466, "end": 50303574 } ], "cds": { "start": 50300483, "end": 50302956 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 50337320, "end": 50349812, "strand": "-" }, "neighbourhood": { 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"ENSG00000068028", "biotype": "protein_coding", "start": 50329782, "end": 50340980, "strand": "-", "slug": "rassf1" }, { "symbol": "ZMYND10", "ensemblId": "ENSG00000004838", "biotype": "protein_coding", "start": 50341110, "end": 50345746, "strand": "-", "slug": "zmynd10" }, { "symbol": "NPRL2", "ensemblId": "ENSG00000114388", "biotype": "protein_coding", "start": 50347330, "end": 50350826, "strand": "-", "slug": "nprl2" }, { "symbol": "CYB561D2", "ensemblId": "ENSG00000114395", "biotype": "protein_coding", "start": 50350834, "end": 50358460, "strand": "+", "slug": "cyb561d2" }, { "symbol": "", "ensemblId": "ENSG00000272104", "biotype": "protein_coding", "start": 50350892, "end": 50367923, "strand": "+" }, { "symbol": "TMEM115", "ensemblId": "ENSG00000126062", "biotype": "protein_coding", "start": 50352820, "end": 50359566, "strand": "-", "slug": "tmem115" }, { "symbol": "CACNA2D2", "ensemblId": "ENSG00000007402", "biotype": "protein_coding", "start": 50362613, "end": 50504244, "strand": "-", "slug": "cacna2d2" }, { "symbol": "C3orf18", "ensemblId": "ENSG00000088543", "biotype": "protein_coding", "start": 50556409, "end": 50573568, "strand": "-", "slug": "c3orf18" }, { "symbol": "HEMK1", "ensemblId": "ENSG00000114735", "biotype": "protein_coding", "start": 50567895, "end": 50596168, "strand": "+", "slug": "hemk1" }, { "symbol": "CISH", "ensemblId": "ENSG00000114737", "biotype": "protein_coding", "start": 50606456, "end": 50611984, "strand": "-", "slug": "cish" }, { "symbol": "MAPKAPK3", "ensemblId": "ENSG00000114738", "biotype": "protein_coding", "start": 50611487, "end": 50651017, "strand": "+", "slug": "mapkapk3" }, { "symbol": "DOCK3", "ensemblId": "ENSG00000088538", "biotype": "protein_coding", "start": 50674875, "end": 51384198, "strand": "+", "slug": "dock3" } ], "truncated": false }, "reports": [ { "slug": "lysosomal-storage-disease", "name": "Lysosomale opslagziekte", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lysosomale stapelingsziekte (overige en niet-gespecificeerde typen)", "genes": 59, "inheritance": null, "description": "Behandelt lysosomale stapelingsziekten zonder eigen rapport, zoals de ziekte van Farber en andere ASAH1-gerelateerde aandoeningen, prosaposine (PSAP)-deficiënties, meervoudige sulfatase-deficiëntie, mucopolysaccharidose type IX en X, en de ziekte van Dorfman-Chanarin; de overerving verschilt per subtype en is meestal autosomaal recessief.", "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-acetabulum-morphology", "name": "Abnormality of the hipbone socket", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-acetabulum-morphology" }, { "slug": "acetabular-erosions", "name": "Acetabular erosions", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acetabular-erosions" }, { "slug": "ankle-pain", "name": "Ankle pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-pain" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "chondrocalcinosis", "name": "Calcium deposits in joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chondrocalcinosis" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "diminished-circulating-hyaluronidase-activity", "name": "Diminished circulating hyaluronidase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diminished-circulating-hyaluronidase-activity" }, { "slug": "hip-pain", "name": "Hip pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hip-pain" }, { "slug": "hyperextensibility-at-elbow", "name": "Hyperextensibility at elbow", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperextensibility-at-elbow" }, { "slug": "finger-joint-hypermobility", "name": "Increased mobility in finger joint", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/finger-joint-hypermobility" }, { "slug": "wrist-hypermobility", "name": "Increased wrist mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wrist-hypermobility" }, { "slug": "knee-pain", "name": "Knee pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/knee-pain" }, { "slug": "lumbar-scoliosis", "name": "Lumbar scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lumbar-scoliosis" }, { "slug": "periarticular-soft-tissue-mass", "name": "Periarticular soft-tissue mass", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/periarticular-soft-tissue-mass" }, { "slug": "popliteal-synovial-cyst", "name": "Popliteal synovial cyst", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/popliteal-synovial-cyst" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "submucous-cleft-hard-palate", "name": "Submucous cleft hard palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate" }, { "slug": "synovitis", "name": "Synovitis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/synovitis" } ], "related": [ { "slug": "abhd5", "symbol": "ABHD5", "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase", "shared": 1, "url": "https://dantelabs.com/nl/genes/abhd5" }, { "slug": "aga", "symbol": "AGA", "name": "aspartylglucosaminidase", "shared": 1, "url": "https://dantelabs.com/nl/genes/aga" }, { "slug": "ap5z1", "symbol": "AP5Z1", "name": "adaptor related protein complex 5 subunit zeta 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/ap5z1" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/nl/genes/arsa" }, { "slug": "arsb", "symbol": "ARSB", "name": "arylsulfatase B", "shared": 1, "url": "https://dantelabs.com/nl/genes/arsb" }, { "slug": "arsk", "symbol": "ARSK", "name": "arylsulfatase family member K", "shared": 1, "url": "https://dantelabs.com/nl/genes/arsk" }, { "slug": "asah1", "symbol": "ASAH1", "name": "N-acylsphingosine amidohydrolase 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/asah1" }, { "slug": "clcn6", "symbol": "CLCN6", "name": "Cl-/H+ antiporter 6", "shared": 1, "url": "https://dantelabs.com/nl/genes/clcn6" }, { "slug": "cln3", "symbol": "CLN3", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "shared": 1, "url": "https://dantelabs.com/nl/genes/cln3" }, { "slug": "cln5", "symbol": "CLN5", "name": "CLN5 lysosomal BMP synthase", "shared": 1, "url": "https://dantelabs.com/nl/genes/cln5" }, { "slug": "cln6", "symbol": "CLN6", "name": "CLN6 transmembrane ER protein", "shared": 1, "url": "https://dantelabs.com/nl/genes/cln6" }, { "slug": "cln8", "symbol": "CLN8", "name": "CLN8 transmembrane ER and ERGIC protein", "shared": 1, "url": "https://dantelabs.com/nl/genes/cln8" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }