{ "url": "https://dantelabs.com/de/genes/polr3k", "gene": { "slug": "polr3k", "symbol": "POLR3K", "name": "RNA polymerase III subunit K", "hgnc": "HGNC:14121", "summary": null, "location": "16p13.3", "locusType": "gene with protein product", "aliases": [ "RPC11", "C11" ], "previousSymbols": [], "ensemblId": "ENSG00000161980", "entrezId": 51728, "omim": [ "606007" ], "uniprot": [ "Q9Y2Y1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 46407, "end": 53608, "strand": "-", "ensemblTranscript": "ENST00000293860.6", "refseqTranscript": "NM_016310.5", "ensemblProtein": "ENSP00000293860.5", "refseqProtein": "NP_057394.3", "exons": [ { "start": 46407, "end": 47557 }, { "start": 51558, "end": 51645 }, { "start": 53476, "end": 53608 } ], "cds": { "start": 47430, "end": 53586 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 96407, "end": 103628, "strand": "-" }, "neighbourhood": { "release": "116", "start": 1, "end": 550007, "genes": [ { "symbol": "SNRNP25", "ensemblId": "ENSG00000161981", "biotype": "protein_coding", "start": 53817, "end": 60009, "strand": "+", "slug": "snrnp25" }, { "symbol": "RHBDF1", "ensemblId": "ENSG00000007384", "biotype": "protein_coding", "start": 58058, "end": 78176, "strand": "-", "slug": "rhbdf1" }, { "symbol": "MPG", "ensemblId": "ENSG00000103152", "biotype": "protein_coding", "start": 77007, "end": 136889, "strand": "+", "slug": "mpg" }, { "symbol": "NPRL3", "ensemblId": "ENSG00000103148", "biotype": "protein_coding", "start": 79387, "end": 138720, "strand": "-", "slug": "nprl3" }, { "symbol": "HBZ", "ensemblId": "ENSG00000130656", "biotype": "protein_coding", "start": 142728, "end": 154503, "strand": "+", "slug": "hbz" }, { "symbol": "HBM", "ensemblId": "ENSG00000206177", "biotype": "protein_coding", "start": 153892, "end": 166770, "strand": "+", "slug": "hbm" }, { "symbol": "HBA2", "ensemblId": "ENSG00000188536", "biotype": "protein_coding", "start": 172021, "end": 173910, "strand": "+", "slug": "hba2" }, { "symbol": "HBA1", "ensemblId": "ENSG00000206172", "biotype": "protein_coding", "start": 176660, "end": 177527, "strand": "+", "slug": "hba1" }, { "symbol": "HBQ1", "ensemblId": "ENSG00000086506", "biotype": "protein_coding", "start": 180437, "end": 181181, "strand": "+", "slug": "hbq1" }, { "symbol": "LUC7L", "ensemblId": "ENSG00000007392", "biotype": "protein_coding", "start": 188943, "end": 229485, "strand": "-", "slug": "luc7l" }, { "symbol": "FAM234A", "ensemblId": "ENSG00000167930", "biotype": "protein_coding", "start": 234521, "end": 272183, "strand": "+", "slug": "fam234a" }, { "symbol": "RGS11", "ensemblId": "ENSG00000076344", "biotype": "protein_coding", "start": 268301, "end": 275980, "strand": "-", "slug": "rgs11" }, { "symbol": "ARHGDIG", "ensemblId": "ENSG00000242173", "biotype": "protein_coding", "start": 280386, "end": 283010, "strand": "+", "slug": "arhgdig" }, { "symbol": "PDIA2", "ensemblId": "ENSG00000185615", "biotype": "protein_coding", "start": 283152, "end": 287215, "strand": "+", "slug": "pdia2" }, { "symbol": "AXIN1", "ensemblId": "ENSG00000103126", "biotype": "protein_coding", "start": 287440, "end": 352734, "strand": "-", "slug": "axin1" }, { "symbol": "MRPL28", "ensemblId": "ENSG00000086504", "biotype": "protein_coding", "start": 365449, "end": 371289, "strand": "-", "slug": "mrpl28" }, { "symbol": "PGAP6", "ensemblId": "ENSG00000129925", "biotype": "protein_coding", "start": 370779, "end": 387113, "strand": "-", "slug": "pgap6" }, { "symbol": "NME4", "ensemblId": "ENSG00000103202", "biotype": "protein_coding", "start": 396725, "end": 410367, "strand": "+", "slug": "nme4" }, { "symbol": "DECR2", "ensemblId": "ENSG00000242612", "biotype": "protein_coding", "start": 401834, "end": 412492, "strand": "+", "slug": "decr2" }, { "symbol": "RAB11FIP3", "ensemblId": "ENSG00000090565", "biotype": "protein_coding", "start": 425593, "end": 523012, "strand": "+", "slug": "rab11fip3" }, { "symbol": "CAPN15", "ensemblId": "ENSG00000103326", "biotype": "protein_coding", "start": 527698, "end": 554636, "strand": "+", "slug": "capn15" } ], "truncated": false }, "reports": [ { "slug": "pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies", "name": "Pelizaeus-Merzbacher-Krankheit und hypomyelinisierende Leukodystrophien", "diseases": [ { "mondoId": "MONDO:0700282", "name": "POLR3-bedingte (4H-)Leukodystrophie", "genes": 4, "inheritance": "autosomal-recessive", "description": "Veränderungen in POLR3A, POLR3B, POLR1C oder POLR3K verursachen eine Hypomyelinisierung mit Gleichgewichts- und Koordinationsproblemen, häufig mit Zahnanomalien und verzögerter Pubertät (Hypomyelinisierung, Hypodontie und hypogonadotroper Hypogonadismus).", "management": "Die Diagnose ermöglicht die Überwachung der Zahnentwicklung und der Pubertät sowie bei Bedarf eine Hormonbehandlung.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Andere erbliche Leukodystrophien", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrophie (andere und nicht näher bezeichnete Typen)", "genes": 80, "inheritance": null, "description": "Erbliche Erkrankungen, die das Myelin, die weiße Substanz von Gehirn und Rückenmark, schädigen oder dessen normale Bildung verhindern. Je nach beteiligtem Gen folgen die verschiedenen Typen einem autosomal-rezessiven, autosomal-dominanten oder X-chromosomalen Erbgang.", "management": "Die Kenntnis der spezifischen genetischen Ursache kann eine diagnostische Suche beenden, die unterstützende Versorgung und Überwachung leiten, zeigen, ob eine spezifische Behandlung existiert, und Tests bei Verwandten ermöglichen.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/leukodystrophy" } ], "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": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coma" }, { "slug": "corpus-callosum-atrophy", "name": "Corpus callosum atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/corpus-callosum-atrophy" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-ability-to-sit", "name": "Delayed ability to sit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-sit" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dyskinesia", "name": "Disorder of involuntary muscle movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyskinesia" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "ketosis", "name": "High levels of ketone bodies", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ketosis" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "athetosis", "name": "Involuntary writhing movements in fingers, hands, toes, and feet", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/athetosis" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "motor-regression", "name": "Motor regression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-regression" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "tetraparesis", "name": "Tetraparesis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tetraparesis" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cryptorchidism" } ], "related": [ { "slug": "polr1c", "symbol": "POLR1C", "name": "RNA polymerase I and III subunit C", "shared": 2, "url": "https://dantelabs.com/de/genes/polr1c" }, { "slug": "polr3a", "symbol": "POLR3A", "name": "RNA polymerase III subunit A", "shared": 2, "url": "https://dantelabs.com/de/genes/polr3a" }, { "slug": "polr3b", "symbol": "POLR3B", "name": "RNA polymerase III subunit B", "shared": 2, "url": "https://dantelabs.com/de/genes/polr3b" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/de/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/de/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/de/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/de/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/de/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/de/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/de/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/de/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/de/genes/arsa" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }