{ "url": "https://dantelabs.com/pl/genes/galns", "gene": { "slug": "galns", "symbol": "GALNS", "name": "galactosamine (N-acetyl)-6-sulfatase", "hgnc": "HGNC:4122", "summary": null, "location": "16q24.3", "locusType": "gene with protein product", "aliases": [ "GAS", "GALNAC6S", "GalN6S" ], "previousSymbols": [], "ensemblId": "ENSG00000141012", "entrezId": 2588, "omim": [ "612222" ], "uniprot": [ "P34059" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 88813734, "end": 88856947, "strand": "-", "ensemblTranscript": "ENST00000268695.10", "refseqTranscript": "NM_000512.5", "ensemblProtein": "ENSP00000268695.5", "refseqProtein": "NP_000503.1", "exons": [ { "start": 88813734, "end": 88814525 }, { "start": 88818007, "end": 88818124 }, { "start": 88822589, "end": 88822710 }, { "start": 88824767, "end": 88824869 }, { "start": 88826702, "end": 88826838 }, { "start": 88831998, "end": 88832101 }, { "start": 88835213, "end": 88835352 }, { "start": 88835725, "end": 88835849 }, { "start": 88836201, "end": 88836267 }, { "start": 88837622, "end": 88837765 }, { "start": 88840992, "end": 88841094 }, { "start": 88841897, "end": 88841971 }, { "start": 88842706, "end": 88842829 }, { "start": 88856758, "end": 88856947 } ], "cds": { "start": 88814439, "end": 88856877 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 88880142, "end": 88923378, "strand": "-" }, "neighbourhood": { "release": "116", "start": 88335341, "end": 89335340, "genes": [ { "symbol": "ZNF469", "ensemblId": "ENSG00000225614", "biotype": "protein_coding", "start": 88382959, "end": 88440757, "strand": "+", "slug": "znf469" }, { "symbol": "ZFPM1", "ensemblId": "ENSG00000179588", "biotype": "protein_coding", "start": 88453208, "end": 88537031, "strand": "+", "slug": "zfpm1" }, { "symbol": "ZC3H18", "ensemblId": "ENSG00000158545", "biotype": "protein_coding", "start": 88570388, "end": 88631966, "strand": "+", "slug": "zc3h18" }, { "symbol": "IL17C", "ensemblId": "ENSG00000124391", "biotype": "protein_coding", "start": 88638571, "end": 88640468, "strand": "+", "slug": "il17c" }, { "symbol": "CYBA", "ensemblId": "ENSG00000051523", "biotype": "protein_coding", "start": 88643275, "end": 88651083, "strand": "-", "slug": "cyba" }, { "symbol": "MVD", "ensemblId": "ENSG00000167508", "biotype": "protein_coding", "start": 88651934, "end": 88663166, "strand": "-", "slug": "mvd" }, { "symbol": "SNAI3", "ensemblId": "ENSG00000185669", "biotype": "protein_coding", "start": 88674992, "end": 88686513, "strand": "-", "slug": "snai3" }, { "symbol": "RNF166", "ensemblId": "ENSG00000158717", "biotype": "protein_coding", "start": 88696494, "end": 88706424, "strand": "-", "slug": "rnf166" }, { "symbol": "CTU2", "ensemblId": "ENSG00000174177", "biotype": "protein_coding", "start": 88706470, "end": 88717853, "strand": "+", "slug": "ctu2" }, { "symbol": "PIEZO1", "ensemblId": "ENSG00000103335", "biotype": "protein_coding", "start": 88715338, "end": 88785251, "strand": "-", "slug": "piezo1" }, { "symbol": "CDT1", "ensemblId": "ENSG00000167513", "biotype": "protein_coding", "start": 88803777, "end": 88809258, "strand": "+", "slug": "cdt1" }, { "symbol": "APRT", "ensemblId": "ENSG00000198931", "biotype": "protein_coding", "start": 88808323, "end": 88811970, "strand": "-", "slug": "aprt" }, { "symbol": "TRAPPC2L", "ensemblId": "ENSG00000167515", "biotype": "protein_coding", "start": 88856220, "end": 88862686, "strand": "+", "slug": "trappc2l" }, { "symbol": "PABPN1L", "ensemblId": "ENSG00000205022", "biotype": "protein_coding", "start": 88863333, "end": 88866660, "strand": "-", "slug": "pabpn1l" }, { "symbol": "CBFA2T3", "ensemblId": "ENSG00000129993", "biotype": "protein_coding", "start": 88874858, "end": 88977207, "strand": "-", "slug": "cbfa2t3" }, { "symbol": "ACSF3", "ensemblId": "ENSG00000176715", "biotype": "protein_coding", "start": 89088375, "end": 89164121, "strand": "+", "slug": "acsf3" }, { "symbol": "CDH15", "ensemblId": "ENSG00000129910", "biotype": "protein_coding", "start": 89171742, "end": 89195492, "strand": "+", "slug": "cdh15" }, { "symbol": "SLC22A31", "ensemblId": "ENSG00000259803", "biotype": "protein_coding", "start": 89195458, "end": 89201692, "strand": "-", "slug": "slc22a31" }, { "symbol": "ZNF778", "ensemblId": "ENSG00000170100", "biotype": "protein_coding", "start": 89217683, "end": 89237141, "strand": "+", "slug": "znf778" }, { "symbol": "ANKRD11", "ensemblId": "ENSG00000167522", "biotype": "protein_coding", "start": 89267619, "end": 89490706, "strand": "-", "slug": "ankrd11" }, { "symbol": "", "ensemblId": "ENSG00000288715", "biotype": "protein_coding", "start": 89317046, "end": 89418292, "strand": "-" } ], "truncated": false }, "reports": [ { "slug": "mucopolysaccharidosis-type-4a", "name": "Mukopolisacharydoza typu IVA (zespół Morquio A)", "diseases": [ { "mondoId": "MONDO:0009659", "name": "Mukopolisacharydoza typu IVA (zespół Morquio A)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Niedobór sulfatazy N-acetylogalaktozamino-6-siarczanowej powoduje niski wzrost, deformacje kręgosłupa i klatki piersiowej, luźność stawów, niestabilność szyi, zmętnienie rogówki oraz chorobę zastawek serca.", "management": "Dostępna jest terapia zastępcza enzymem (elosulfaza alfa), a niestabilność szyi wymaga monitorowania, zwłaszcza przed znieczuleniem.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/mucopolysaccharidosis-type-4a" }, { "slug": "lysosomal-storage-disease", "name": "Choroba spichrzeniowa lizosomów", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Choroba spichrzeniowa lizosomów (inne i nieokreślone typy)", "genes": 59, "inheritance": null, "description": "Obejmuje choroby spichrzeniowe lizosomów, które nie mają odrębnego raportu, takie jak choroba Farbera i inne zaburzenia związane z genem ASAH1, niedobory prozapozyny (PSAP), wieloraki niedobór sulfatаz, mukopolisacharydozy typu IX i X oraz chorobę Dorfmana-Chanarina; dziedziczenie zależy od podtypu, najczęściej jest autosomalne recesywne.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-heart-valve-morphology", "name": "Abnormal heart valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology" }, { "slug": "anterior-beaking-of-lumbar-vertebrae", "name": "Anterior beaking of lumbar vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anterior-beaking-of-lumbar-vertebrae" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "metaphyseal-widening", "name": "Broad wide portion of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/metaphyseal-widening" }, { "slug": "bronchoconstriction", "name": "Bronchoconstriction", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bronchoconstriction" }, { "slug": "cervical-myelopathy", "name": "Cervical myelopathy", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cervical-myelopathy" }, { "slug": "cervical-subluxation", "name": "Cervical subluxation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/cervical-subluxation" }, { "slug": "chondroitin-sulfate-excretion-in-urine", "name": "Chondroitin sulfate excretion in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/chondroitin-sulfate-excretion-in-urine" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "constricted-iliac-wing", "name": "Constricted iliac wing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/constricted-iliac-wing" }, { "slug": "coxa-valga", "name": "Coxa valga", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/coxa-valga" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "carious-teeth", "name": "Dental cavities", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/carious-teeth" }, { "slug": "disproportionate-short-trunk-short-stature", "name": "Disproportionate short-trunked short stature", "systems": [ "abnormality-of-the-musculoskeletal-system", "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/disproportionate-short-trunk-short-stature" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "dysostosis-multiplex", "name": "Dysostosis multiplex", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysostosis-multiplex" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "epiphyseal-deformities-of-tubular-bones", "name": "Epiphyseal deformities of tubular bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/epiphyseal-deformities-of-tubular-bones" }, { "slug": "flaring-of-rib-cage", "name": "Flaring of rib cage", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flaring-of-rib-cage" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "grayish-enamel", "name": "Grayish enamel", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/grayish-enamel" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "hypoplasia-of-the-odontoid-process", "name": "Hypoplasia of the odontoid process", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-odontoid-process" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "keratan-sulfate-excretion-in-urine", "name": "Keratan sulfate excretion in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/keratan-sulfate-excretion-in-urine" }, { "slug": "genu-valgum", "name": "Knock knees", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/genu-valgum" }, { "slug": "large-elbow", "name": "Large elbow", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/large-elbow" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "opacification-of-the-corneal-stroma", "name": "Opacification of the corneal stroma", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "ovoid-vertebral-bodies", "name": "Ovoid vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/ovoid-vertebral-bodies" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "pointed-proximal-second-through-fifth-metacarpals", "name": "Pointed proximal second through fifth metacarpals", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pointed-proximal-second-through-fifth-metacarpals" }, { "slug": "prominent-sternum", "name": "Prominent sternum", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/prominent-sternum" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "recurrent-upper-respiratory-tract-infections", "name": "Recurrent colds", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "slug": "lumbar-kyphosis", "name": "Rounded lower back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lumbar-kyphosis" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "ulnar-deviation-of-the-wrist", "name": "Ulnar deviation of the wrist", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-wrist" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/waddling-gait" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "widely-spaced-teeth", "name": "Widely spaced teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/widely-spaced-teeth" } ], "related": [ { "slug": "abhd5", "symbol": "ABHD5", "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase", "shared": 1, "url": "https://dantelabs.com/pl/genes/abhd5" }, { "slug": "aga", "symbol": "AGA", "name": "aspartylglucosaminidase", "shared": 1, "url": "https://dantelabs.com/pl/genes/aga" }, { "slug": "ap5z1", "symbol": "AP5Z1", "name": "adaptor related protein complex 5 subunit zeta 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/ap5z1" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/pl/genes/arsa" }, { "slug": "arsb", "symbol": "ARSB", "name": "arylsulfatase B", "shared": 1, "url": "https://dantelabs.com/pl/genes/arsb" }, { "slug": "arsk", "symbol": "ARSK", "name": "arylsulfatase family member K", "shared": 1, "url": "https://dantelabs.com/pl/genes/arsk" }, { "slug": "asah1", "symbol": "ASAH1", "name": "N-acylsphingosine amidohydrolase 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/asah1" }, { "slug": "clcn6", "symbol": "CLCN6", "name": "Cl-/H+ antiporter 6", "shared": 1, "url": "https://dantelabs.com/pl/genes/clcn6" }, { "slug": "cln3", "symbol": "CLN3", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "shared": 1, "url": "https://dantelabs.com/pl/genes/cln3" }, { "slug": "cln5", "symbol": "CLN5", "name": "CLN5 lysosomal BMP synthase", "shared": 1, "url": "https://dantelabs.com/pl/genes/cln5" }, { "slug": "cln6", "symbol": "CLN6", "name": "CLN6 transmembrane ER protein", "shared": 1, "url": "https://dantelabs.com/pl/genes/cln6" }, { "slug": "cln8", "symbol": "CLN8", "name": "CLN8 transmembrane ER and ERGIC protein", "shared": 1, "url": "https://dantelabs.com/pl/genes/cln8" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }