{ "url": "https://dantelabs.com/lt/genes/kctd7", "gene": { "slug": "kctd7", "symbol": "KCTD7", "name": "potassium channel tetramerization domain containing 7", "hgnc": "HGNC:21957", "summary": null, "location": "7q11.21", "locusType": "gene with protein product", "aliases": [ "FLJ32069", "EPM3", "CLN14" ], "previousSymbols": [], "ensemblId": "ENSG00000243335", "entrezId": 154881, "omim": [ "611725" ], "uniprot": [ "Q96MP8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 66628881, "end": 66643047, "strand": "+", "ensemblTranscript": "ENST00000639828.2", "refseqTranscript": "NM_153033.5", "ensemblProtein": "ENSP00000492240.1", "refseqProtein": "NP_694578.1", "exons": [ { "start": 66628881, "end": 66629208 }, { "start": 66633275, "end": 66633444 }, { "start": 66638253, "end": 66638431 }, { "start": 66638856, "end": 66643047 } ], "cds": { "start": 66629065, "end": 66639232 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 66093868, "end": 66276446, "strand": "+" }, "neighbourhood": { "release": "116", "start": 66135964, "end": 67135963, "genes": [ { "symbol": "", "ensemblId": "ENSG00000249319", "biotype": "protein_coding", "start": 66087761, "end": 66152277, "strand": "+" }, { "symbol": "CRCP", "ensemblId": "ENSG00000241258", "biotype": "protein_coding", "start": 66114604, "end": 66154568, "strand": "+", "slug": "crcp" }, { "symbol": "TPST1", "ensemblId": "ENSG00000169902", "biotype": "protein_coding", "start": 66205289, "end": 66420549, "strand": "+", "slug": "tpst1" }, { "symbol": "", "ensemblId": "ENSG00000284461", "biotype": "protein_coding", "start": 66628958, "end": 66811189, "strand": "+" }, { "symbol": "RABGEF1", "ensemblId": "ENSG00000154710", "biotype": "protein_coding", "start": 66682105, "end": 66811464, "strand": "+", "slug": "rabgef1" }, { "symbol": "TMEM248", "ensemblId": "ENSG00000106609", "biotype": "protein_coding", "start": 66921160, "end": 66958551, "strand": "+", "slug": "tmem248" }, { "symbol": "SBDS", "ensemblId": "ENSG00000126524", "biotype": "protein_coding", "start": 66987679, "end": 66995693, "strand": "-", "slug": "sbds" }, { "symbol": "TYW1", "ensemblId": "ENSG00000198874", "biotype": "protein_coding", "start": 66995173, "end": 67239525, "strand": "+", "slug": "tyw1" } ], "truncated": false }, "reports": [ { "slug": "neuronal-ceroid-lipofuscinosis", "name": "Neuronų ceroido lipofuscinozė", "diseases": [ { "mondoId": "MONDO:0016295", "name": "Neuronų ceroido lipofuscinozė", "genes": 13, "inheritance": "autosomal-recessive", "description": "Paveldimų progresuojančių degeneracinių smegenų ligų grupė, klinikiniu požiūriu pasireiškianti protinių ir kitų gebėjimų silpnėjimu, epilepsija ir regėjimo netekimu dėl tinklainės degeneracijos, o histopatologiškai – autofluorescencinės medžiagos, ceroido lipofuscino, kaupimusi neuronų ląstelėse smegenyse ir tinklainėje.", "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/neuronal-ceroid-lipofuscinosis" }, { "slug": "disorder-of-glycosylation", "name": "Kongenitalinės glikozilinimo sutrikimai", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Kongenitalinės glikozilinimo sutrikimai (CDG)", "genes": 98, "inheritance": null, "description": "Didelė paveldimų ligų grupė, kai cukraus grandinės (glikanai) netinkamai susidaro arba netinkamai prisijungia prie baltymų ir lipidų, dažnai pažeidžiančios smegenis, kepenis, kraujo krešėjimą, augimą ir daugelį kitų organų sistemų. Dauguma yra autosominiu recesyviniu būdu paveldimi, tačiau kai kurios yra X chromosomos susietos arba autosominiu dominantiniu būdu paveldimos.", "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/disorder-of-glycosylation" }, { "slug": "epilepsy-report", "name": "Epilepsija (pilnas tyrimas)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsija", "genes": 171, "inheritance": null, "description": "Smegenų sutrikimas, pasireiškiantis epizodais, kai neuronai nenormaliai intensyviai išsikrauna, dėl ko atsiranda trumpalaikiai jutimo ar judesio neurologinio funkcijos sutrikimo arba psichikos funkcijos sutrikimo epizodai. Šie epizodai gali būti susiję arba nesusiję su sąmonės netekimu ar traukuliais.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/epilepsy-report" }, { "slug": "lysosomal-storage-disease", "name": "Lizosominė kaupimo liga", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lizosomų kaupimosi liga (kiti ir nepatikslinti tipai)", "genes": 59, "inheritance": null, "description": "Apima lizosomų kaupimosi ligas, kurioms nėra atskiros ataskaitos, pavyzdžiui, Farbero ligą ir kitus su ASAH1 susijusius sutrikimus, prosapozino (PSAP) trūkumus, daugybinį sulfatazių trūkumą, mukopolisacharidozės IX ir X tipus bei Dorfmano-Chanarino ligą. Paveldėjimo tipas priklauso nuo poformio, dažniausiai autosominis recesyvinis.", "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-vision", "name": "Abnormality of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-vision" }, { "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": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "aplasia-hypoplasia-of-the-corpus-callosum", "name": "Aplasia/Hypoplasia of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum" }, { "slug": "bilateral-tonic-clonic-seizure-with-focal-onset", "name": "Bilateral tonic-clonic seizure with focal onset", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset" }, { "slug": "chin-myoclonus", "name": "Chin myoclonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chin-myoclonus" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "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": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "eeg-with-focal-epileptiform-discharges", "name": "EEG with focal epileptiform discharges", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/eeg-with-focal-epileptiform-discharges" }, { "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years", "name": "Febrile seizure (within the age range of 3 months to 6 years)", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years" }, { "slug": "fingerprint-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material", "name": "Fingerprint intracellular accumulation of autofluorescent lipopigment storage material", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/fingerprint-intracellular-accumulation-of-autofluorescent-lipopigment-storage-material" }, { "slug": "focal-eeg-discharges-with-secondary-generalization", "name": "Focal EEG discharges with secondary generalization", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-eeg-discharges-with-secondary-generalization" }, { "slug": "focal-myoclonic-seizure", "name": "Focal myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-myoclonic-seizure" }, { "slug": "generalized-myoclonic-seizure", "name": "Generalized myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "limb-myoclonus", "name": "Limb myoclonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limb-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": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "myoclonic-status-epilepticus", "name": "Myoclonic status epilepticus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonic-status-epilepticus" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "photosensitive-myoclonic-seizure", "name": "Photosensitive myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photosensitive-myoclonic-seizure" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "progressive-psychomotor-deterioration", "name": "Progressive psychomotor deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-psychomotor-deterioration" }, { "slug": "progressive-truncal-ataxia", "name": "Progressive truncal ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-truncal-ataxia" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "cln8", "symbol": "CLN8", "name": "CLN8 transmembrane ER and ERGIC protein", "shared": 3, "url": "https://dantelabs.com/lt/genes/cln8" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 2, "url": "https://dantelabs.com/lt/genes/alg13" }, { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp6ap2" }, { "slug": "cad", "symbol": "CAD", "name": "carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase", "shared": 2, "url": "https://dantelabs.com/lt/genes/cad" }, { "slug": "clcn6", "symbol": "CLCN6", "name": "Cl-/H+ antiporter 6", "shared": 2, "url": "https://dantelabs.com/lt/genes/clcn6" }, { "slug": "cln3", "symbol": "CLN3", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "shared": 2, "url": "https://dantelabs.com/lt/genes/cln3" }, { "slug": "cln5", "symbol": "CLN5", "name": "CLN5 lysosomal BMP synthase", "shared": 2, "url": "https://dantelabs.com/lt/genes/cln5" }, { "slug": "cln6", "symbol": "CLN6", "name": "CLN6 transmembrane ER protein", "shared": 2, "url": "https://dantelabs.com/lt/genes/cln6" }, { "slug": "ctsd", "symbol": "CTSD", "name": "cathepsin D", "shared": 2, "url": "https://dantelabs.com/lt/genes/ctsd" }, { "slug": "ctsf", "symbol": "CTSF", "name": "cathepsin F", "shared": 2, "url": "https://dantelabs.com/lt/genes/ctsf" }, { "slug": "dnajc5", "symbol": "DNAJC5", "name": "DnaJ heat shock protein family (Hsp40) member C5", "shared": 2, "url": "https://dantelabs.com/lt/genes/dnajc5" }, { "slug": "gne", "symbol": "GNE", "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase", "shared": 2, "url": "https://dantelabs.com/lt/genes/gne" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }