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"end": 1349439, "strand": "+", "slug": "baiap3" }, { "symbol": "TSR3", "ensemblId": "ENSG00000007520", "biotype": "protein_coding", "start": 1349236, "end": 1351898, "strand": "-", "slug": "tsr3" }, { "symbol": "UNKL", "ensemblId": "ENSG00000059145", "biotype": "protein_coding", "start": 1363205, "end": 1414751, "strand": "-", "slug": "unkl" }, { "symbol": "UQCC4", "ensemblId": "ENSG00000174109", "biotype": "protein_coding", "start": 1419752, "end": 1420756, "strand": "-", "slug": "uqcc4" }, { "symbol": "PERCC1", "ensemblId": "ENSG00000284395", "biotype": "protein_coding", "start": 1431078, "end": 1434441, "strand": "+", "slug": "percc1" }, { "symbol": "CCDC154", "ensemblId": "ENSG00000197599", "biotype": "protein_coding", "start": 1434383, "end": 1444556, "strand": "-", "slug": "ccdc154" }, { "symbol": "CLCN7", "ensemblId": "ENSG00000103249", "biotype": "protein_coding", "start": 1444934, "end": 1475104, "strand": "-", "slug": "clcn7" }, { "symbol": "PTX4", "ensemblId": "ENSG00000251692", "biotype": "protein_coding", "start": 1485886, "end": 1488981, "strand": "-", "slug": "ptx4" }, { "symbol": "TELO2", "ensemblId": "ENSG00000100726", "biotype": "protein_coding", "start": 1493329, "end": 1512551, "strand": "+", "slug": "telo2" }, { "symbol": "IFT140", "ensemblId": "ENSG00000187535", "biotype": "protein_coding", "start": 1510427, "end": 1612082, "strand": "-", "slug": "ift140" }, { "symbol": "TMEM204", "ensemblId": "ENSG00000131634", "biotype": "protein_coding", "start": 1528674, "end": 1555580, "strand": "+", "slug": "tmem204" }, { "symbol": "CRAMP1", "ensemblId": "ENSG00000007545", "biotype": "protein_coding", "start": 1612337, "end": 1677908, "strand": "+", "slug": "cramp1" }, { "symbol": "", "ensemblId": "ENSG00000261732", "biotype": "protein_coding", "start": 1632259, "end": 1686715, "strand": "+" }, { "symbol": "JPT2", "ensemblId": "ENSG00000206053", "biotype": "protein_coding", "start": 1678256, "end": 1702859, "strand": "+", "slug": "jpt2" }, { "symbol": "MAPK8IP3", "ensemblId": "ENSG00000138834", "biotype": "protein_coding", "start": 1706166, "end": 1770374, "strand": "+", "slug": "mapk8ip3" }, { "symbol": "NME3", "ensemblId": "ENSG00000103024", "biotype": "protein_coding", "start": 1770317, "end": 1771746, "strand": "-", "slug": "nme3" }, { "symbol": "MRPS34", "ensemblId": "ENSG00000074071", "biotype": "protein_coding", "start": 1771889, "end": 1773487, "strand": "-", "slug": "mrps34" }, { "symbol": "EME2", "ensemblId": "ENSG00000197774", "biotype": "protein_coding", "start": 1772283, "end": 1781708, "strand": "+", "slug": "eme2" }, { "symbol": "SPSB3", "ensemblId": "ENSG00000162032", "biotype": "protein_coding", "start": 1776710, "end": 1793700, "strand": "-", "slug": "spsb3" }, { "symbol": "NUBP2", "ensemblId": "ENSG00000095906", "biotype": "protein_coding", "start": 1782932, "end": 1789189, "strand": "+", "slug": "nubp2" }, { "symbol": "IGFALS", "ensemblId": "ENSG00000099769", "biotype": "protein_coding", "start": 1790227, "end": 1794971, "strand": "-", "slug": "igfals" }, { "symbol": "HAGH", "ensemblId": "ENSG00000063854", "biotype": "protein_coding", "start": 1795620, "end": 1827187, "strand": "-", "slug": "hagh" }, { "symbol": "FAHD1", "ensemblId": "ENSG00000180185", "biotype": "protein_coding", "start": 1826967, "end": 1842053, "strand": "+", "slug": "fahd1" }, { "symbol": "MEIOB", "ensemblId": "ENSG00000162039", "biotype": "protein_coding", "start": 1833986, "end": 1884294, "strand": "-", "slug": "meiob" } ], "truncated": false }, "reports": [ { "slug": "mucolipidoses", "name": "Mukolipidoosid (ML II, ML III ja ML IV)", "diseases": [ { "mondoId": "MONDO:0009652", "name": "GNPTG-ga seotud mukolipidoos (ML III gamma)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Kergem vorm, millega kaasnevad liigeste jäikus, luumuutused ja madal kasv, tavaliselt normaalne intellekt.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/et/conditions/mucolipidoses" }, { "slug": "lysosomal-storage-disease", "name": "Lüsosomaalne ladustamishaigus", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lüsosomaalne ladustamishaigus (muud ja täpsustamata tüübid)", "genes": 59, "inheritance": null, "description": "Hõlmab lüsosomaalseid ladustamishaigusi, millel ei ole eraldi raportit, näiteks Farberi tõbe ja muid ASAH1-ga seotud häireid, prosaposiini (PSAP) puudulikkusi, multipelset sulfataasi puudulikkust, mukopolüsahharidoosi tüüpe IX ja X ning Dorfman-Chanarini tõbe; pärilikkuse muster sõltub alatüübist, kõige sagedamini autosomaal-retsessiivne.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/et/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "aortic-regurgitation", "name": "Aortic regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/aortic-regurgitation" }, { "slug": "claw-hand-deformity", "name": "Claw hand deformity", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/claw-hand-deformity" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "dysostosis-multiplex", "name": "Dysostosis multiplex", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/dysostosis-multiplex" }, { "slug": "elevated-circulating-beta-hexosaminidase-activity", "name": "Elevated circulating beta-hexosaminidase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-beta-hexosaminidase-activity" }, { "slug": "finger-joint-contracture", "name": "Finger joint contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/finger-joint-contracture" }, { "slug": "flared-iliac-wing", "name": "Flared iliac wing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flared-iliac-wing" }, { "slug": "flat-capital-femoral-epiphysis", "name": "Flat end part of innermost thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flat-capital-femoral-epiphysis" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "increased-iduronate-sulfatase-level", "name": "Increased iduronate sulfatase level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-iduronate-sulfatase-level" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "arthralgia", "name": "Joint pain", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/arthralgia" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "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": "aortic-valve-stenosis", "name": "Narrowing of aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/aortic-valve-stenosis" }, { "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": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "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": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "shoulder-contracture", "name": "Shoulder contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/shoulder-contracture" } ], "related": [ { "slug": "abhd5", "symbol": "ABHD5", "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase", "shared": 1, "url": "https://dantelabs.com/et/genes/abhd5" }, { "slug": "aga", "symbol": "AGA", "name": "aspartylglucosaminidase", "shared": 1, "url": "https://dantelabs.com/et/genes/aga" }, { "slug": "ap5z1", "symbol": "AP5Z1", "name": "adaptor related protein complex 5 subunit zeta 1", "shared": 1, "url": "https://dantelabs.com/et/genes/ap5z1" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/et/genes/arsa" }, { "slug": "arsb", "symbol": "ARSB", "name": "arylsulfatase B", "shared": 1, "url": "https://dantelabs.com/et/genes/arsb" }, { "slug": "arsk", "symbol": "ARSK", "name": "arylsulfatase family member K", "shared": 1, "url": "https://dantelabs.com/et/genes/arsk" }, { "slug": "asah1", "symbol": "ASAH1", "name": "N-acylsphingosine amidohydrolase 1", "shared": 1, "url": "https://dantelabs.com/et/genes/asah1" }, { "slug": "clcn6", "symbol": "CLCN6", "name": "Cl-/H+ antiporter 6", "shared": 1, "url": "https://dantelabs.com/et/genes/clcn6" }, { "slug": "cln3", "symbol": "CLN3", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "shared": 1, "url": "https://dantelabs.com/et/genes/cln3" }, { "slug": "cln5", "symbol": "CLN5", "name": "CLN5 lysosomal BMP synthase", "shared": 1, "url": "https://dantelabs.com/et/genes/cln5" }, { "slug": "cln6", "symbol": "CLN6", "name": "CLN6 transmembrane ER protein", "shared": 1, "url": "https://dantelabs.com/et/genes/cln6" }, { "slug": "cln8", "symbol": "CLN8", "name": "CLN8 transmembrane ER and ERGIC protein", "shared": 1, "url": "https://dantelabs.com/et/genes/cln8" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }