{ "url": "https://dantelabs.com/pl/genes/tecpr2", "gene": { "slug": "tecpr2", "symbol": "TECPR2", "name": "tectonin beta-propeller repeat containing 2", "hgnc": "HGNC:19957", "summary": null, "location": "14q32.33", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "KIAA0329" ], "ensemblId": "ENSG00000196663", "entrezId": 9895, "omim": [ "615000" ], "uniprot": [ "O15040" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 102362941, "end": 102502477, "strand": "+", "ensemblTranscript": "ENST00000359520.12", "refseqTranscript": "NM_014844.5", "ensemblProtein": "ENSP00000352510.7", "refseqProtein": "NP_055659.2", "exons": [ { "start": 102362941, "end": 102363116 }, { "start": 102376650, "end": 102376940 }, { "start": 102407338, "end": 102407466 }, { "start": 102408488, "end": 102408619 }, { "start": 102414636, "end": 102414793 }, { "start": 102424979, "end": 102425291 }, { "start": 102428250, "end": 102428382 }, { "start": 102431796, "end": 102432128 }, { "start": 102434235, "end": 102435211 }, { "start": 102438022, "end": 102438205 }, { "start": 102440436, "end": 102440609 }, { "start": 102443647, "end": 102443827 }, { "start": 102445806, "end": 102445947 }, { "start": 102449629, "end": 102449869 }, { "start": 102450560, "end": 102450649 }, { "start": 102452394, "end": 102452627 }, { "start": 102465141, "end": 102465289 }, { "start": 102496979, "end": 102497120 }, { "start": 102497570, "end": 102497719 }, { "start": 102498103, "end": 102502477 } ], "cds": { "start": 102376722, "end": 102498257 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "14", "start": 102829300, "end": 102968818, "strand": "+" }, "neighbourhood": { "release": "116", "start": 101932709, "end": 102932708, "genes": [ { "symbol": "DYNC1H1", "ensemblId": "ENSG00000197102", "biotype": "protein_coding", "start": 101964519, "end": 102056443, "strand": "+", "slug": "dync1h1" }, { "symbol": "HSP90AA1", "ensemblId": "ENSG00000080824", "biotype": "protein_coding", "start": 102080738, "end": 102139773, "strand": "-", "slug": "hsp90aa1" }, { "symbol": "WDR20", "ensemblId": "ENSG00000140153", "biotype": "protein_coding", "start": 102139503, "end": 102224847, "strand": "+", "slug": "wdr20" }, { "symbol": "MOK", "ensemblId": "ENSG00000080823", "biotype": "protein_coding", "start": 102224500, "end": 102305193, "strand": "-", "slug": "mok" }, { "symbol": "ZNF839", "ensemblId": "ENSG00000022976", "biotype": "protein_coding", "start": 102317377, "end": 102344638, "strand": "+", "slug": "znf839" }, { "symbol": "CINP", "ensemblId": "ENSG00000100865", "biotype": "protein_coding", "start": 102341102, "end": 102362916, "strand": "-", "slug": "cinp" }, { "symbol": "ANKRD9", "ensemblId": "ENSG00000156381", "biotype": "protein_coding", "start": 102501767, "end": 102509824, "strand": "-", "slug": "ankrd9" }, { "symbol": "RCOR1", "ensemblId": "ENSG00000089902", "biotype": "protein_coding", "start": 102592649, "end": 102743672, "strand": "+", "slug": "rcor1" }, { "symbol": "TRAF3", "ensemblId": "ENSG00000131323", "biotype": "protein_coding", "start": 102777326, "end": 102911500, "strand": "+", "slug": "traf3" }, { "symbol": "AMN", "ensemblId": "ENSG00000166126", "biotype": "protein_coding", "start": 102922639, "end": 102933596, "strand": "+", "slug": "amn" }, { "symbol": "CDC42BPB", "ensemblId": "ENSG00000198752", "biotype": "protein_coding", "start": 102932380, "end": 103057607, "strand": "-", "slug": "cdc42bpb" } ], "truncated": false }, "reports": [ { "slug": "hereditary-sensory-and-autonomic-neuropathies", "name": "Dziedziczne neuropatie czuciowe i autonomiczne (w tym rodzinna dysautonomia)", "diseases": [ { "mondoId": "MONDO:0015364", "name": "Dziedziczna neuropatia czuciowa i autonomiczna", "genes": 21, "inheritance": null, "description": "Grupa neuropatii, w tym rodzinna dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) oraz wrodzona niewrażliwość na ból (NTRK1, SCN9A, PRDM12). Większość z nich ma dziedziczenie recesywne, natomiast HSAN1 dziedziczy się dominująco.", "management": "Ochrona przed niezauważonymi urazami, oparzeniami i zakażeniami, leczenie objawów autonomicznych oraz badanie nosicielstwa dla krewnych (rodzinna dysautonomia jest uwzględniona w badaniach przesiewowych nosicielstwa u osób pochodzenia aszkenazyjskiego).", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/hereditary-sensory-and-autonomic-neuropathies" }, { "slug": "hereditary-spastic-paraplegia", "name": "Dziedziczna paraplegia spastyczna", "diseases": [ { "mondoId": "MONDO:0014016", "name": "Dziedziczna paraplegia spastyczna 49", "genes": 1, "inheritance": "autosomal-recessive", "description": "Każda dziedziczna paraplegia spastyczna, której przyczyną jest mutacja w genie TECPR2.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019064", "name": "Dziedziczna paraplegia spastyczna (wszystkie typy)", "genes": 66, "inheritance": null, "description": "Termin zbiorczy obejmujący wszystkie dziedziczne paraplegie spastyczne, w tym SPG4 (SPAST), najczęstszą postać dominującą, a także SPG5A, SPG6, SPG10, SPG18, SPG30 i SPG31.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/hereditary-spastic-paraplegia" } ], "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": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "broad-neck", "name": "Broad neck", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-neck" }, { "slug": "central-apnea", "name": "Central apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/central-apnea" }, { "slug": "hypomimic-face", "name": "Decreased facial expressions", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypomimic-face" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "full-cheeks", "name": "Full cheeks", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/full-cheeks" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "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": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "low-anterior-hairline", "name": "Low frontal hairline", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-anterior-hairline" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "round-face", "name": "Round face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/round-face" }, { "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": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "spastic-gait", "name": "Spastic walk", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-gait" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" } ], "related": [ { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 2, "url": "https://dantelabs.com/pl/genes/atl1" }, { "slug": "kif1a", "symbol": "KIF1A", "name": "kinesin family member 1A", "shared": 2, "url": "https://dantelabs.com/pl/genes/kif1a" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/abcd1" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/pl/genes/abhd16a" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/aifm1" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "shared": 1, "url": "https://dantelabs.com/pl/genes/aldh18a1" }, { "slug": "amfr", "symbol": "AMFR", "name": "autocrine motility factor receptor", "shared": 1, "url": "https://dantelabs.com/pl/genes/amfr" }, { "slug": "ap4b1", "symbol": "AP4B1", "name": "adaptor related protein complex 4 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/ap4b1" }, { "slug": "ap4e1", "symbol": "AP4E1", "name": "adaptor related protein complex 4 subunit epsilon 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/ap4e1" }, { "slug": "ap4m1", "symbol": "AP4M1", "name": "adaptor related protein complex 4 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/ap4m1" }, { "slug": "ap4s1", "symbol": "AP4S1", "name": "adaptor related protein complex 4 subunit sigma 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/ap4s1" }, { "slug": "ap5z1", "symbol": "AP5Z1", "name": "adaptor related protein complex 5 subunit zeta 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/ap5z1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }