{ "url": "https://dantelabs.com/de/genes/ugdh", "gene": { "slug": "ugdh", "symbol": "UGDH", "name": "UDP-glucose 6-dehydrogenase", "hgnc": "HGNC:12525", "summary": null, "location": "4p14", "locusType": "gene with protein product", "aliases": [ "GDH", "UDPGDH", "UDP-GlcDH", "UGD" ], "previousSymbols": [], "ensemblId": "ENSG00000109814", "entrezId": 7358, "omim": [ "603370" ], "uniprot": [ "O60701" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 39498755, "end": 39527439, "strand": "-", "ensemblTranscript": "ENST00000316423.11", "refseqTranscript": "NM_003359.4", "ensemblProtein": "ENSP00000319501.6", "refseqProtein": "NP_003350.1", "exons": [ { "start": 39498755, "end": 39500253 }, { "start": 39503875, "end": 39503985 }, { "start": 39504417, "end": 39504508 }, { "start": 39505237, "end": 39505370 }, { "start": 39505618, "end": 39505748 }, { "start": 39508566, "end": 39508660 }, { "start": 39509760, "end": 39509907 }, { "start": 39510353, "end": 39510550 }, { "start": 39510661, "end": 39510861 }, { "start": 39514083, "end": 39514184 }, { "start": 39521351, "end": 39521519 }, { "start": 39527283, "end": 39527439 } ], "cds": { "start": 39500143, "end": 39521512 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 39500375, "end": 39529931, "strand": "-" }, "neighbourhood": { "release": "116", "start": 39013097, "end": 40013096, "genes": [ { "symbol": "TMEM156", "ensemblId": "ENSG00000121895", "biotype": "protein_coding", "start": 38965999, "end": 39032922, "strand": "-", "slug": "tmem156" }, { "symbol": "KLHL5", "ensemblId": "ENSG00000109790", "biotype": "protein_coding", "start": 39044613, "end": 39126857, "strand": "+", "slug": "klhl5" }, { "symbol": "WDR19", "ensemblId": "ENSG00000157796", "biotype": "protein_coding", "start": 39182463, "end": 39285810, "strand": "+", "slug": "wdr19" }, { "symbol": "RFC1", "ensemblId": "ENSG00000035928", "biotype": "protein_coding", "start": 39287455, "end": 39366400, "strand": "-", "slug": "rfc1" }, { "symbol": "KLB", "ensemblId": "ENSG00000134962", "biotype": "protein_coding", "start": 39406896, "end": 39451533, "strand": "+", "slug": "klb" }, { "symbol": "RPL9", "ensemblId": "ENSG00000163682", "biotype": "protein_coding", "start": 39450679, "end": 39472424, "strand": "-", "slug": "rpl9" }, { "symbol": "LIAS", "ensemblId": "ENSG00000121897", "biotype": "protein_coding", "start": 39459004, "end": 39485109, "strand": "+", "slug": "lias" }, { "symbol": "SMIM14", "ensemblId": "ENSG00000163683", "biotype": "protein_coding", "start": 39546336, "end": 39639092, "strand": "-", "slug": "smim14" }, { "symbol": "UBE2K", "ensemblId": "ENSG00000078140", "biotype": "protein_coding", "start": 39697879, "end": 39782792, "strand": "+", "slug": "ube2k" }, { "symbol": "PDS5A", "ensemblId": "ENSG00000121892", "biotype": "protein_coding", "start": 39822863, "end": 39977993, "strand": "-", "slug": "pds5a" } ], "truncated": false }, "reports": [ { "slug": "epilepsy-report", "name": "Epilepsie (Komplettpanel)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Epilepsie", "genes": 171, "inheritance": null, "description": "Eine Erkrankung des Gehirns, die durch Episoden abnorm gesteigerter neuronaler Entladungen gekennzeichnet ist. Diese führen zu vorübergehenden sensorischen, motorischen oder psychischen Funktionsstörungen und können mit oder ohne Bewusstseinsverlust oder Krämpfe auftreten.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/epilepsy-report" } ], "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": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "plagiocephaly", "name": "Asymmetry of the posterior head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/plagiocephaly" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/chorea" }, { "slug": "deeply-set-eye", "name": "Deeply set eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/deeply-set-eye" }, { "slug": "delayed-ability-to-sit", "name": "Delayed ability to sit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-sit" }, { "slug": "delayed-cns-myelination", "name": "Delayed CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-cns-myelination" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "eeg-with-burst-suppression", "name": "EEG with burst suppression", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/eeg-with-burst-suppression" }, { "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": "very-frequent", "url": "https://dantelabs.com/traits/epileptic-encephalopathy" }, { "slug": "epileptic-spasm", "name": "Epileptic spasm", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epileptic-spasm" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "thick-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion" }, { "slug": "gastrostomy-tube-feeding-in-infancy", "name": "Gastrostomy tube feeding in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "hypsarrhythmia", "name": "Hypsarrhythmia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypsarrhythmia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "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" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "large-earlobe", "name": "Large earlobe", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/large-earlobe" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "synophrys", "name": "Monobrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/synophrys" }, { "slug": "blepharophimosis", "name": "Narrow opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/blepharophimosis" }, { "slug": "opisthotonus", "name": "Opisthotonus", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/opisthotonus" }, { "slug": "pointed-chin", "name": "Pointed chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pointed-chin" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "short-palpebral-fissure", "name": "Short opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-palpebral-fissure" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/de/genes/aars1" }, { "slug": "abat", "symbol": "ABAT", "name": "4-aminobutyrate aminotransferase", "shared": 1, "url": "https://dantelabs.com/de/genes/abat" }, { "slug": "actl6b", "symbol": "ACTL6B", "name": "actin like 6B", "shared": 1, "url": "https://dantelabs.com/de/genes/actl6b" }, { "slug": "adam22", "symbol": "ADAM22", "name": "ADAM metallopeptidase domain 22", "shared": 1, "url": "https://dantelabs.com/de/genes/adam22" }, { "slug": "aldh7a1", "symbol": "ALDH7A1", "name": "aldehyde dehydrogenase 7 family member A1", "shared": 1, "url": "https://dantelabs.com/de/genes/aldh7a1" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/alg13" }, { "slug": "ap3b2", "symbol": "AP3B2", "name": "adaptor related protein complex 3 subunit beta 2", "shared": 1, "url": "https://dantelabs.com/de/genes/ap3b2" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/de/genes/arhgef9" }, { "slug": "arv1", "symbol": "ARV1", "name": "ARV1 fatty acid homeostasis modulator", "shared": 1, "url": "https://dantelabs.com/de/genes/arv1" }, { "slug": "arx", "symbol": "ARX", "name": "aristaless related homeobox", "shared": 1, "url": "https://dantelabs.com/de/genes/arx" }, { "slug": "atp1a2", "symbol": "ATP1A2", "name": "ATPase Na+/K+ transporting subunit alpha 2", "shared": 1, "url": "https://dantelabs.com/de/genes/atp1a2" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/de/genes/atp1a3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }