{ "url": "https://dantelabs.com/it/genes/st3gal5", "gene": { "slug": "st3gal5", "symbol": "ST3GAL5", "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 5", "hgnc": "HGNC:10872", "summary": null, "location": "2p11.2", "locusType": "gene with protein product", "aliases": [ "ST3GalV", "SIATGM3S" ], "previousSymbols": [ "SIAT9" ], "ensemblId": "ENSG00000115525", "entrezId": 8869, "omim": [ "604402" ], "uniprot": [ "Q9UNP4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 85837120, "end": 85888990, "strand": "-", "ensemblTranscript": "ENST00000638572.2", "refseqTranscript": "NM_003896.4", "ensemblProtein": "ENSP00000491316.1", "refseqProtein": "NP_003887.3", "exons": [ { "start": 85837120, "end": 85840392 }, { "start": 85844396, "end": 85844554 }, { "start": 85846377, "end": 85846563 }, { "start": 85847861, "end": 85848204 }, { "start": 85861181, "end": 85861292 }, { "start": 85863362, "end": 85863485 }, { "start": 85888824, "end": 85888990 } ], "cds": { 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"protein_coding", "start": 85655154, "end": 85668741, "strand": "-", "slug": "sftpb" }, { "symbol": "GNLY", "ensemblId": "ENSG00000115523", "biotype": "protein_coding", "start": 85685175, "end": 85698854, "strand": "+", "slug": "gnly" }, { "symbol": "ATOH8", "ensemblId": "ENSG00000168874", "biotype": "protein_coding", "start": 85751344, "end": 85794266, "strand": "+", "slug": "atoh8" }, { "symbol": "POLR1A", "ensemblId": "ENSG00000068654", "biotype": "protein_coding", "start": 86020216, "end": 86106155, "strand": "-", "slug": "polr1a" }, { "symbol": "PTCD3", "ensemblId": "ENSG00000132300", "biotype": "protein_coding", "start": 86106223, "end": 86142157, "strand": "+", "slug": "ptcd3" }, { "symbol": "IMMT", "ensemblId": "ENSG00000132305", "biotype": "protein_coding", "start": 86142798, "end": 86195631, "strand": "-", "slug": "immt" }, { "symbol": "MRPL35", "ensemblId": "ENSG00000132313", "biotype": "protein_coding", "start": 86199355, "end": 86222540, "strand": "+", "slug": "mrpl35" }, { "symbol": "REEP1", "ensemblId": "ENSG00000068615", "biotype": "protein_coding", "start": 86210522, "end": 86338083, "strand": "-", "slug": "reep1" } ], "truncated": false }, "reports": [ { "slug": "gpi-anchor-biosynthesis-defects", "name": "Difetti della biosintesi dell'ancora GPI", "diseases": [ { "mondoId": "MONDO:0024321", "name": "Disturbi della biosintesi dell'ancora GPI", "genes": 20, "inheritance": null, "description": "Un gruppo di malattie ereditarie causate da varianti nei geni PIG, PGAP e geni correlati, necessari per produrre e agganciare l'ancora GPI, che tipicamente provocano ritardo dello sviluppo, ipotonia e epilessia.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/it/conditions/gpi-anchor-biosynthesis-defects" }, { "slug": "disorder-of-glycosylation", "name": "Glicosilazione congenita disturbata (CDG)", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Glicosilazione congenita disturbata (CDG)", "genes": 98, "inheritance": null, "description": "Un ampio gruppo di condizioni ereditarie in cui le catene di zuccheri (glicani) non vengono costruite o attaccate correttamente a proteine e lipidi, con effetti spesso su cervello, fegato, coagulazione del sangue, crescita e molti altri sistemi dell'organismo. La maggior parte รจ autosomica recessiva, ma alcune sono legate al cromosoma X o autosomiche dominanti.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/it/conditions/disorder-of-glycosylation" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "developmental-stagnation-at-onset-of-seizures", "name": "Developmental stagnation at onset of seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-stagnation-at-onset-of-seizures" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "global-brain-atrophy", "name": "Generalized brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-brain-atrophy" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hypermelanotic-macule", "name": "Hyperpigmented skin patches", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hypermelanotic-macule" }, { "slug": "hyporeflexia-of-upper-limbs", "name": "Hyporeflexia of upper limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyporeflexia-of-upper-limbs" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "multifocal-epileptiform-discharges", "name": "Multifocal epileptiform discharges", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/multifocal-epileptiform-discharges" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "lower-limb-hyperreflexia", "name": "Overactive lower leg reflex", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "pgap2", "symbol": "PGAP2", "name": "post-GPI attachment to proteins 2", "shared": 2, "url": "https://dantelabs.com/it/genes/pgap2" }, { "slug": "pgap3", "symbol": "PGAP3", "name": "post-GPI attachment to proteins phospholipase 3", "shared": 2, "url": "https://dantelabs.com/it/genes/pgap3" }, { "slug": "piga", "symbol": "PIGA", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "shared": 2, "url": "https://dantelabs.com/it/genes/piga" }, { "slug": "pigg", "symbol": "PIGG", "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)", "shared": 2, "url": "https://dantelabs.com/it/genes/pigg" }, { "slug": "pigl", "symbol": "PIGL", "name": "phosphatidylinositol glycan anchor biosynthesis class L", "shared": 2, "url": "https://dantelabs.com/it/genes/pigl" }, { "slug": "pign", "symbol": "PIGN", "name": "phosphatidylinositol glycan anchor biosynthesis class N", "shared": 2, "url": "https://dantelabs.com/it/genes/pign" }, { "slug": "pigo", "symbol": "PIGO", "name": "phosphatidylinositol glycan anchor biosynthesis class O", "shared": 2, "url": "https://dantelabs.com/it/genes/pigo" }, { "slug": "pigt", "symbol": "PIGT", "name": "phosphatidylinositol glycan anchor biosynthesis class T", "shared": 2, "url": "https://dantelabs.com/it/genes/pigt" }, { "slug": "pigv", "symbol": "PIGV", "name": "phosphatidylinositol glycan anchor biosynthesis class V", "shared": 2, "url": "https://dantelabs.com/it/genes/pigv" }, { "slug": "pigw", "symbol": "PIGW", "name": "phosphatidylinositol glycan anchor biosynthesis class W", "shared": 2, "url": "https://dantelabs.com/it/genes/pigw" }, { "slug": "pigy", "symbol": "PIGY", "name": "phosphatidylinositol glycan anchor biosynthesis class Y", "shared": 2, "url": "https://dantelabs.com/it/genes/pigy" }, { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/it/genes/a4galt" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }