{ "url": "https://dantelabs.com/nl/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-ziekte en hypomyeliniserende leukodystrofieën", "diseases": [ { "mondoId": "MONDO:0700282", "name": "POLR3-gerelateerde (4H) leukodystrofie", "genes": 4, "inheritance": "autosomal-recessive", "description": "Veranderingen in POLR3A, POLR3B, POLR1C of POLR3K veroorzaken hypomyelinisatie met problemen met evenwicht en coördinatie, vaak met tandafwijkingen en vertraagde puberteit (hypomyelinisatie, hypodontie en hypogonadotroop hypogonadisme).", "management": "De diagnose maakt controle van de tandontwikkeling en de puberteit mogelijk, en hormoonbehandeling waar nodig.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies" }, { "slug": "leukodystrophy", "name": "Overige erfelijke leukodystrofieën", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrofie (overige en niet-gespecificeerde typen)", "genes": 80, "inheritance": null, "description": "Erfelijke aandoeningen die de vorming van myeline, de witte stof van de hersenen en het ruggenmerg, beschadigen of normale vorming verhinderen. Afhankelijk van het betrokken gen volgen de verschillende typen autosomaal recessieve, autosomaal dominante of X-gebonden overerving.", "management": "Het kennen van de specifieke genetische oorzaak kan een diagnostisch zoektraject beëindigen, de ondersteunende zorg en controles sturen, laten zien of een specifieke behandeling bestaat, en het mogelijk maken familieleden te testen.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/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/nl/genes/polr1c" }, { "slug": "polr3a", "symbol": "POLR3A", "name": "RNA polymerase III subunit A", "shared": 2, "url": "https://dantelabs.com/nl/genes/polr3a" }, { "slug": "polr3b", "symbol": "POLR3B", "name": "RNA polymerase III subunit B", "shared": 2, "url": "https://dantelabs.com/nl/genes/polr3b" }, { "slug": "aars1", "symbol": "AARS1", "name": "alanyl-tRNA synthetase 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/aars1" }, { "slug": "aars2", "symbol": "AARS2", "name": "alanyl-tRNA synthetase 2, mitochondrial", "shared": 1, "url": "https://dantelabs.com/nl/genes/aars2" }, { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/abcd1" }, { "slug": "acer3", "symbol": "ACER3", "name": "alkaline ceramidase 3", "shared": 1, "url": "https://dantelabs.com/nl/genes/acer3" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/nl/genes/adar" }, { "slug": "aimp1", "symbol": "AIMP1", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/aimp1" }, { "slug": "aimp2", "symbol": "AIMP2", "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/aimp2" }, { "slug": "aldh3a2", "symbol": "ALDH3A2", "name": "aldehyde dehydrogenase 3 family member A2", "shared": 1, "url": "https://dantelabs.com/nl/genes/aldh3a2" }, { "slug": "arsa", "symbol": "ARSA", "name": "arylsulfatase A", "shared": 1, "url": "https://dantelabs.com/nl/genes/arsa" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }