{ "url": "https://dantelabs.com/et/genes/dennd5a", "gene": { "slug": "dennd5a", "symbol": "DENND5A", "name": "DENN domain containing 5A", "hgnc": "HGNC:19344", "summary": null, "location": "11p15.4", "locusType": "gene with protein product", "aliases": [ "KIAA1091", "FLJ22354", "FLJ33829", "FLJ43455" ], "previousSymbols": [ "RAB6IP1" ], "ensemblId": "ENSG00000184014", "entrezId": 23258, "omim": [ "617278" ], "uniprot": [ "Q6IQ26" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 9138825, "end": 9265350, "strand": "-", "ensemblTranscript": "ENST00000328194.8", "refseqTranscript": "NM_015213.4", "ensemblProtein": "ENSP00000328524.3", "refseqProtein": "NP_056028.2", "exons": [ { "start": 9138825, "end": 9139854 }, { "start": 9141940, "end": 9142108 }, { "start": 9142722, "end": 9142845 }, { "start": 9143403, "end": 9143485 }, { "start": 9144097, "end": 9144278 }, { "start": 9144995, "end": 9145113 }, { "start": 9145670, "end": 9145815 }, { "start": 9147030, "end": 9147151 }, { "start": 9150081, "end": 9150209 }, { "start": 9150680, "end": 9150764 }, { "start": 9152358, "end": 9152442 }, { "start": 9160713, "end": 9160865 }, { "start": 9165836, "end": 9165967 }, { "start": 9169856, "end": 9169949 }, { "start": 9170627, "end": 9170777 }, { "start": 9178132, "end": 9178366 }, { "start": 9178858, "end": 9179073 }, { "start": 9180767, "end": 9181084 }, { "start": 9193494, "end": 9193681 }, { "start": 9203660, "end": 9204317 }, { "start": 9206673, "end": 9206782 }, { "start": 9207561, "end": 9207632 }, { "start": 9264961, "end": 9265350 } ], "cds": { "start": 9139671, "end": 9265069 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 9160372, "end": 9286937, "strand": "-" }, "neighbourhood": { "release": "116", "start": 8702088, "end": 9702087, "genes": [ { "symbol": "RPL27A", "ensemblId": "ENSG00000166441", "biotype": "protein_coding", "start": 8682732, "end": 8714759, "strand": "+", "slug": "rpl27a" }, { "symbol": "DENND2B", "ensemblId": "ENSG00000166444", "biotype": "protein_coding", "start": 8693343, "end": 8910951, "strand": "-", "slug": "dennd2b" }, { "symbol": "AKIP1", "ensemblId": "ENSG00000166452", "biotype": "protein_coding", "start": 8911108, "end": 8922406, "strand": "+", "slug": "akip1" }, { "symbol": "C11orf16", "ensemblId": "ENSG00000176029", "biotype": "protein_coding", "start": 8920076, "end": 8933006, "strand": "-", "slug": "c11orf16" }, { "symbol": "ASCL3", "ensemblId": "ENSG00000176009", "biotype": "protein_coding", "start": 8937578, "end": 8943016, "strand": "-", "slug": "ascl3" }, { "symbol": "TMEM9B", "ensemblId": "ENSG00000175348", "biotype": "protein_coding", "start": 8946992, "end": 8965011, "strand": "-", "slug": "tmem9b" }, { "symbol": "NRIP3", "ensemblId": "ENSG00000175352", "biotype": "protein_coding", "start": 8965682, "end": 9005288, "strand": "-", "slug": "nrip3" }, { "symbol": "SCUBE2", "ensemblId": "ENSG00000175356", "biotype": "protein_coding", "start": 9019476, "end": 9138114, "strand": "-", "slug": "scube2" }, { "symbol": "TMEM41B", "ensemblId": "ENSG00000166471", "biotype": "protein_coding", "start": 9280654, "end": 9314687, "strand": "-", "slug": "tmem41b" }, { "symbol": "IPO7", "ensemblId": "ENSG00000205339", "biotype": "protein_coding", "start": 9384604, "end": 9448127, "strand": "+", "slug": "ipo7" }, { "symbol": "ZNF143", "ensemblId": "ENSG00000166478", "biotype": "protein_coding", "start": 9460319, "end": 9529155, "strand": "+", "slug": "znf143" }, { "symbol": "WEE1", "ensemblId": "ENSG00000166483", "biotype": "protein_coding", "start": 9573540, "end": 9593457, "strand": "+", "slug": "wee1" }, { "symbol": "SWAP70", "ensemblId": "ENSG00000133789", "biotype": "protein_coding", "start": 9664058, "end": 9753298, "strand": "+", "slug": "swap70" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsia (täielik paneel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsia", "genes": 171, "inheritance": null, "description": "Ajuhaigus, mida iseloomustavad ebanormaalselt suurenenud neuronite aktiivsuse episoodid, mis põhjustavad ajutisi sensoorse või motoorse neuroloogilise talitlushäire või psüühilise talitlushäire episoode. Need episoodid võivad olla seotud teadvuse kaotuse või krampidega, aga ei pruugi.", "management": null, "evidence": { "gencc": [ "Baylor College of Medicine Research Center", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/et/conditions/epilepsy-report" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "cerebral-calcification", "name": "Abnormal deposits of calcium in the brain", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-calcification" }, { "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": "frequent", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "basal-ganglia-calcification", "name": "Basal ganglia calcification", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/basal-ganglia-calcification" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "clonic-seizure", "name": "Clonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clonic-seizure" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "dandy-walker-malformation", "name": "Dandy-Walker malformation", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dandy-walker-malformation" }, { "slug": "everted-lower-lip-vermilion", "name": "Drooping lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion" }, { "slug": "dysplastic-corpus-callosum", "name": "Dysplastic corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysplastic-corpus-callosum" }, { "slug": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "epileptic-encephalopathy", "name": "Epileptic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "exaggerated-startle-response", "name": "Exaggerated startle response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exaggerated-startle-response" }, { "slug": "facial-lingual-fasciculations", "name": "Facial-lingual fasciculations", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-lingual-fasciculations" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "thick-upper-lip-vermilion", "name": "Full upper lip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/thick-upper-lip-vermilion" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "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": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "long-eyelashes", "name": "Long eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/long-eyelashes" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "myoclonic-seizure", "name": "Myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonic-seizure" }, { "slug": "open-mouth", "name": "Open mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/open-mouth" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "profound-global-developmental-delay", "name": "Profound global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/profound-global-developmental-delay" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "short-philtrum", "name": "Short philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-philtrum" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "slug": "thick-eyebrow", "name": "Thick eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thick-eyebrow" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tonic-seizure" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/et/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/et/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/et/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/et/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/et/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/et/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/et/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/et/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/et/genes/arv1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/et/genes/arx" }, { "slug": "atp1a2", "symbol": "ATP1A2", "name": "ATPase Na+/K+ transporting subunit alpha 2", "shared": 1, "url": "https://dantelabs.com/et/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/et/genes/atp1a3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }