{ "url": "https://dantelabs.com/es/genes/cad", "gene": { "slug": "cad", "symbol": "CAD", "name": "carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase", "hgnc": "HGNC:1424", "summary": null, "location": "2p23.3", "locusType": "gene with protein product", "aliases": [ "GATD4" ], "previousSymbols": [], "ensemblId": "ENSG00000084774", "entrezId": 790, "omim": [ "114010" ], "uniprot": [ "P27708" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 27217369, "end": 27243943, "strand": "+", "ensemblTranscript": "ENST00000264705.9", "refseqTranscript": "NM_004341.5", "ensemblProtein": "ENSP00000264705.3", "refseqProtein": "NP_004332.2", "exons": [ { "start": 27217369, "end": 27217633 }, { "start": 27217877, "end": 27218016 }, { "start": 27221218, "end": 27221347 }, { "start": 27222194, "end": 27222336 }, { "start": 27222519, "end": 27222660 }, { "start": 27222866, "end": 27223037 }, { "start": 27223563, "end": 27223748 }, { "start": 27223917, "end": 27224029 }, { "start": 27224345, "end": 27224490 }, { "start": 27224745, "end": 27224876 }, { "start": 27225010, "end": 27225243 }, { "start": 27225705, "end": 27225926 }, { "start": 27226131, "end": 27226319 }, { "start": 27226525, "end": 27226649 }, { "start": 27226832, "end": 27226962 }, { "start": 27231468, "end": 27231580 }, { "start": 27231980, "end": 27232224 }, { "start": 27232448, "end": 27232694 }, { "start": 27233042, "end": 27233140 }, { "start": 27233312, "end": 27233536 }, { "start": 27233626, "end": 27233808 }, { "start": 27234008, "end": 27234226 }, { "start": 27234518, "end": 27234685 }, { "start": 27235245, "end": 27235427 }, { "start": 27235536, "end": 27235640 }, { "start": 27236284, "end": 27236523 }, { "start": 27236749, "end": 27236830 }, { "start": 27237379, "end": 27237545 }, { "start": 27237718, "end": 27237882 }, { "start": 27238056, "end": 27238187 }, { "start": 27238431, "end": 27238632 }, { "start": 27239042, "end": 27239232 }, { "start": 27239331, "end": 27239471 }, { "start": 27239697, "end": 27239798 }, { "start": 27240265, "end": 27240361 }, { "start": 27240911, "end": 27240955 }, { "start": 27241058, "end": 27241227 }, { "start": 27241322, "end": 27241396 }, { "start": 27241911, "end": 27242123 }, { "start": 27242302, "end": 27242427 }, { "start": 27242620, "end": 27242775 }, { "start": 27242872, "end": 27242973 }, { "start": 27243198, "end": 27243292 }, { "start": 27243416, "end": 27243943 } ], "cds": { "start": 27217552, "end": 27243518 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 27440258, "end": 27466811, "strand": "+" }, "neighbourhood": { "release": "116", "start": 26730656, "end": 27730655, "genes": [ { "symbol": "KCNK3", "ensemblId": "ENSG00000171303", "biotype": "protein_coding", "start": 26692713, "end": 26733420, "strand": "+", "slug": "kcnk3" }, { "symbol": "SLC35F6", "ensemblId": "ENSG00000213699", "biotype": "protein_coding", "start": 26764240, "end": 26781231, "strand": "+", "slug": "slc35f6" }, { "symbol": "CENPA", "ensemblId": "ENSG00000115163", "biotype": "protein_coding", "start": 26764289, "end": 26801067, "strand": "+", "slug": "cenpa" }, { "symbol": "DPYSL5", "ensemblId": "ENSG00000157851", "biotype": "protein_coding", "start": 26847747, "end": 26950351, "strand": "+", "slug": "dpysl5" }, { "symbol": "MAPRE3", "ensemblId": "ENSG00000084764", "biotype": "protein_coding", "start": 26970400, "end": 27027219, "strand": "+", "slug": "mapre3" }, { "symbol": "TMEM214", "ensemblId": "ENSG00000119777", "biotype": "protein_coding", "start": 27032910, "end": 27041697, "strand": "+", "slug": "tmem214" }, { "symbol": "AGBL5", "ensemblId": "ENSG00000084693", "biotype": "protein_coding", "start": 27042364, "end": 27070622, "strand": "+", "slug": "agbl5" }, { "symbol": "OST4", "ensemblId": "ENSG00000228474", "biotype": "protein_coding", "start": 27058735, "end": 27073830, "strand": "-", "slug": "ost4" }, { "symbol": "EMILIN1", "ensemblId": "ENSG00000138080", "biotype": "protein_coding", "start": 27078044, "end": 27086408, "strand": "+", "slug": "emilin1" }, { "symbol": "KHK", "ensemblId": "ENSG00000138030", "biotype": "protein_coding", "start": 27086723, "end": 27100777, "strand": "+", "slug": "khk" }, { "symbol": "CGREF1", "ensemblId": "ENSG00000138028", "biotype": "protein_coding", "start": 27098853, "end": 27119139, "strand": "-", "slug": "cgref1" }, { "symbol": "ABHD1", "ensemblId": "ENSG00000143994", "biotype": "protein_coding", "start": 27123789, "end": 27130812, "strand": "+", "slug": "abhd1" }, { "symbol": "PREB", "ensemblId": "ENSG00000138073", "biotype": "protein_coding", "start": 27129153, "end": 27134689, "strand": "-", "slug": "preb" }, { "symbol": "PRR30", "ensemblId": "ENSG00000186143", "biotype": "protein_coding", "start": 27136848, "end": 27139410, "strand": "-", "slug": "prr30" }, { "symbol": "TCF23", "ensemblId": "ENSG00000163792", "biotype": "protein_coding", "start": 27148999, "end": 27156974, "strand": "+", "slug": "tcf23" }, { "symbol": "SLC5A6", "ensemblId": "ENSG00000138074", "biotype": "protein_coding", "start": 27199587, "end": 27212958, "strand": "-", "slug": "slc5a6" }, { "symbol": "ATRAID", "ensemblId": "ENSG00000138085", "biotype": "protein_coding", "start": 27212012, "end": 27217178, "strand": "+", "slug": "atraid" }, { "symbol": "SLC30A3", "ensemblId": "ENSG00000115194", "biotype": "protein_coding", "start": 27253509, "end": 27275817, "strand": "-", "slug": "slc30a3" }, { "symbol": "DNAJC5G", "ensemblId": "ENSG00000163793", "biotype": "protein_coding", "start": 27275430, "end": 27281499, "strand": "+", "slug": "dnajc5g" }, { "symbol": "TRIM54", "ensemblId": "ENSG00000138100", "biotype": "protein_coding", "start": 27282366, "end": 27309400, "strand": "+", "slug": "trim54" }, { "symbol": "UCN", "ensemblId": "ENSG00000163794", "biotype": "protein_coding", "start": 27307400, "end": 27308445, "strand": "-", "slug": "ucn" }, { "symbol": "MPV17", "ensemblId": "ENSG00000115204", "biotype": "protein_coding", "start": 27309486, "end": 27325680, "strand": "-", "slug": "mpv17" }, { "symbol": "GTF3C2", "ensemblId": "ENSG00000115207", "biotype": "protein_coding", "start": 27324198, "end": 27357566, "strand": "-", "slug": "gtf3c2" }, { "symbol": "EIF2B4", "ensemblId": "ENSG00000115211", "biotype": "protein_coding", "start": 27363420, "end": 27370466, "strand": "-", "slug": "eif2b4" }, { "symbol": "SNX17", "ensemblId": "ENSG00000115234", "biotype": "protein_coding", "start": 27370496, "end": 27377535, "strand": "+", "slug": "snx17" }, { "symbol": "ZNF513", "ensemblId": "ENSG00000163795", "biotype": "protein_coding", "start": 27377235, "end": 27380790, "strand": "-", "slug": "znf513" }, { "symbol": "PPM1G", "ensemblId": "ENSG00000115241", "biotype": "protein_coding", "start": 27381194, "end": 27409674, "strand": "-", "slug": "ppm1g" }, { "symbol": "NRBP1", "ensemblId": "ENSG00000115216", "biotype": "protein_coding", "start": 27427790, "end": 27442260, "strand": "+", "slug": "nrbp1" }, { "symbol": "KRTCAP3", "ensemblId": "ENSG00000157992", "biotype": "protein_coding", "start": 27442337, "end": 27446486, "strand": "+", "slug": "krtcap3" }, { "symbol": "IFT172", "ensemblId": "ENSG00000138002", "biotype": "protein_coding", "start": 27444374, "end": 27489839, "strand": "-", "slug": "ift172" }, { "symbol": "FNDC4", "ensemblId": "ENSG00000115226", "biotype": "protein_coding", "start": 27491260, "end": 27495631, "strand": "-", "slug": "fndc4" }, { "symbol": "GCKR", "ensemblId": "ENSG00000084734", "biotype": "protein_coding", "start": 27496055, "end": 27523688, "strand": "+", "slug": "gckr" }, { "symbol": "SPATA31H1", "ensemblId": "ENSG00000221843", "biotype": "protein_coding", "start": 27537386, "end": 27582722, "strand": "+", "slug": "spata31h1" }, { "symbol": "ZNF512", "ensemblId": "ENSG00000243943", "biotype": "protein_coding", "start": 27582969, "end": 27623217, "strand": "+", "slug": "znf512" }, { "symbol": "CCDC121", "ensemblId": "ENSG00000176714", "biotype": "protein_coding", "start": 27625535, "end": 27629018, "strand": "-", "slug": "ccdc121" }, { "symbol": "GPN1", "ensemblId": "ENSG00000198522", "biotype": "protein_coding", "start": 27628247, "end": 27652152, "strand": "+", "slug": "gpn1" }, { "symbol": "SUPT7L", "ensemblId": "ENSG00000119760", "biotype": "protein_coding", "start": 27642568, "end": 27663847, "strand": "-", "slug": "supt7l" }, { "symbol": "SLC4A1AP", "ensemblId": "ENSG00000163798", "biotype": "protein_coding", "start": 27663426, "end": 27695756, "strand": "+", "slug": "slc4a1ap" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "Trastornos congénitos de la glicosilación", "diseases": [ { "mondoId": "MONDO:0015286", "name": "Trastornos congénitos de la glicosilación (CDG)", "genes": 98, "inheritance": null, "description": "Un amplio grupo de afecciones hereditarias en las que las cadenas de azúcares (glicanos) no se forman ni se unen correctamente a las proteínas y a los lípidos, y que a menudo afectan al cerebro, el hígado, la coagulación sanguínea, el crecimiento y otros muchos sistemas del organismo. La mayoría son autosómicas recesivas, pero algunas son ligadas al cromosoma X o autosómicas dominantes.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/es/conditions/disorder-of-glycosylation" }, { "slug": "epilepsy-report", "name": "Epilepsia (panel completo)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsia", "genes": 171, "inheritance": null, "description": "Un trastorno cerebral caracterizado por episodios de descargas neuronales anormalmente elevadas que provocan episodios transitorios de disfunción neurológica sensitiva o motora, o disfunción psíquica. Estos episodios pueden asociarse o no a pérdida de consciencia o convulsiones.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/es/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-glycosylation", "name": "Abnormal glycosylation", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-glycosylation" }, { "slug": "acanthocytosis", "name": "Acanthocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acanthocytosis" }, { "slug": "renal-tubular-acidosis", "name": "Accumulation of acid in body due to kidney problem", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/renal-tubular-acidosis" }, { "slug": "anisopoikilocytosis", "name": "Anisopoikilocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anisopoikilocytosis" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epileptic-encephalopathy", "name": "Epileptic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "global-brain-atrophy", "name": "Generalized brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "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": "hyperammonemia", "name": "High blood ammonia levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperammonemia" }, { "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": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "schistocytosis", "name": "Schistocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/schistocytosis" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-based-gait" } ], "related": [ { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 2, "url": "https://dantelabs.com/es/genes/alg13" }, { "slug": "atp6ap2", "symbol": "ATP6AP2", "name": "ATPase H+ transporting accessory protein 2", "shared": 2, "url": "https://dantelabs.com/es/genes/atp6ap2" }, { "slug": "kctd7", "symbol": "KCTD7", "name": "potassium channel tetramerization domain containing 7", "shared": 2, "url": "https://dantelabs.com/es/genes/kctd7" }, { "slug": "nus1", "symbol": "NUS1", "name": "NUS1 dehydrodolichyl diphosphate synthase subunit", "shared": 2, "url": "https://dantelabs.com/es/genes/nus1" }, { "slug": "piga", "symbol": "PIGA", "name": "phosphatidylinositol glycan anchor biosynthesis class A", "shared": 2, "url": "https://dantelabs.com/es/genes/piga" }, { "slug": "slc35a2", "symbol": "SLC35A2", "name": "solute carrier family 35 member A2", "shared": 2, "url": "https://dantelabs.com/es/genes/slc35a2" }, { "slug": "st3gal3", "symbol": "ST3GAL3", "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 3", "shared": 2, "url": "https://dantelabs.com/es/genes/st3gal3" }, { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/es/genes/a4galt" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/es/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/es/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/es/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/es/genes/adam22" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }