{
  "url": "https://dantelabs.com/el/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": "Νόσος Pelizaeus-Merzbacher και υπομυελινωτικές λευκοδystροφίες",
        "diseases": [
          {
            "mondoId": "MONDO:0700282",
            "name": "Λευκοδystροφία (4H) που σχετίζεται με το POLR3",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Μεταβολές στα POLR3A, POLR3B, POLR1C ή POLR3K προκαλούν υπομυελίνωση με προβλήματα ισορροπίας και συντονισμού, συχνά με οδοντικές ανωμαλίες και καθυστερημένη εφηβεία (υπομυελίνωση, υποδοντία και υπογοναδοτροπικός υπογοναδισμός).",
            "management": "Η διάγνωση επιτρέπει την παρακολούθηση της οδοντικής ανάπτυξης και της εφηβείας, καθώς και θεραπεία με ορμόνες όπου χρειάζεται.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Κληρονομικές νευροεκφυλιστικές διαταραχές",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Νευροεκφυλιστική διαταραχή που σχετίζεται με το KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Προκαλείται από μεταβολές σε ένα αντίγραφο του KIF5A, του γονιδίου που κωδικοποιεί μια κινητική πρωτεΐνη με ουρά πρόσδεσης φορτίου. Διαφορετικά είδη μεταβολής οδηγούν σε διαφορετικά νοσήματα: κληρονομική σπαστική παραπληγία τύπου 10, αξονική μορφή νόσου Charcot-Marie-Tooth και αμυοτροφική πλευρική σκλήρυνση (ALS).",
            "management": "Η φροντίδα είναι συμπτωματική και εξαρτάται από την εικόνα της νόσου, και περιλαμβάνει φυσιοθεραπεία, φάρμακα για τη σπαστικότητα και πολυκλινική φροντίδα για την ALS. Κάθε παιδί ατόμου που πάσχει έχει πιθανότητα 1 στις 2 να κληρονομήσει τη μεταβολή· η γενετική συμβουλευτική βοηθά τις οικογένειες να το κατανοήσουν.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "leukodystrophy",
        "name": "Άλλες κληρονομικές λευκοδystrοφίες",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Λευκοδυστροφία (άλλοι και μη προσδιορισμένοι τύποι)",
            "genes": 80,
            "inheritance": null,
            "description": "Κληρονομικές παθήσεις που βλάπτουν ή εμποδίζουν τον φυσιολογικό σχηματισμό της μυελίνης, της λευκής ουσίας του εγκεφάλου και του νωτιαίου μυελού. Οι διαφορετικοί τύποι ακολουθούν αυτοσωμική υπολειπόμενη, αυτοσωμική επικρατή ή X-συνδεδεμένη κληρονομικότητα, ανάλογα με το εμπλεκόμενο γονίδιο.",
            "management": "Η γνώση της συγκεκριμένης γενετικής αιτίας μπορεί να τερματίσει τη διαγνωστική αναζήτηση, να καθοδηγήσει τη υποστηρικτική φροντίδα και την παρακολούθηση, να δείξει αν υπάρχει συγκεκριμένη θεραπεία και να επιτρέψει τον έλεγχο των συγγενών.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/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": 3,
        "url": "https://dantelabs.com/el/genes/polr1c"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "name": "RNA polymerase III subunit A",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/polr3a"
      },
      {
        "slug": "polr3b",
        "symbol": "POLR3B",
        "name": "RNA polymerase III subunit B",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/polr3b"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/arsa"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}