{
  "url": "https://dantelabs.com/el/genes/polr3b",
  "gene": {
    "slug": "polr3b",
    "symbol": "POLR3B",
    "name": "RNA polymerase III subunit B",
    "hgnc": "HGNC:30348",
    "summary": null,
    "location": "12q23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "RPC2",
      "FLJ10388",
      "C128"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000013503",
    "entrezId": 55703,
    "omim": [
      "614366"
    ],
    "uniprot": [
      "Q9NW08"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 106357748,
      "end": 106510198,
      "strand": "+",
      "ensemblTranscript": "ENST00000228347.9",
      "refseqTranscript": "NM_018082.6",
      "ensemblProtein": "ENSP00000228347.4",
      "refseqProtein": "NP_060552.4",
      "exons": [
        {
          "start": 106357748,
          "end": 106357951
        },
        {
          "start": 106363870,
          "end": 106363902
        },
        {
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        },
        {
          "start": 106366658,
          "end": 106366722
        },
        {
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          "end": 106369350
        },
        {
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          "end": 106369683
        },
        {
          "start": 106376359,
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        },
        {
          "start": 106378267,
          "end": 106378384
        },
        {
          "start": 106380031,
          "end": 106380139
        },
        {
          "start": 106393031,
          "end": 106393153
        },
        {
          "start": 106405857,
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        },
        {
          "start": 106410826,
          "end": 106410960
        },
        {
          "start": 106427197,
          "end": 106427358
        },
        {
          "start": 106430273,
          "end": 106430473
        },
        {
          "start": 106432318,
          "end": 106432480
        },
        {
          "start": 106433719,
          "end": 106433872
        },
        {
          "start": 106437057,
          "end": 106437131
        },
        {
          "start": 106437681,
          "end": 106437779
        },
        {
          "start": 106444463,
          "end": 106444590
        },
        {
          "start": 106454502,
          "end": 106454711
        },
        {
          "start": 106457138,
          "end": 106457296
        },
        {
          "start": 106459251,
          "end": 106459368
        },
        {
          "start": 106463478,
          "end": 106463620
        },
        {
          "start": 106496055,
          "end": 106496158
        },
        {
          "start": 106496752,
          "end": 106496918
        },
        {
          "start": 106501323,
          "end": 106501436
        },
        {
          "start": 106504081,
          "end": 106504254
        },
        {
          "start": 106509420,
          "end": 106510198
        }
      ],
      "cds": {
        "start": 106357880,
        "end": 106509549
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 106751436,
      "end": 106903976,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 105933973,
      "end": 106933972,
      "genes": [
        {
          "symbol": "NUAK1",
          "ensemblId": "ENSG00000074590",
          "biotype": "protein_coding",
          "start": 106063345,
          "end": 106139145,
          "strand": "-",
          "slug": "nuak1"
        },
        {
          "symbol": "CKAP4",
          "ensemblId": "ENSG00000136026",
          "biotype": "protein_coding",
          "start": 106236448,
          "end": 106304279,
          "strand": "-",
          "slug": "ckap4"
        },
        {
          "symbol": "TCP11L2",
          "ensemblId": "ENSG00000166046",
          "biotype": "protein_coding",
          "start": 106301929,
          "end": 106347704,
          "strand": "+",
          "slug": "tcp11l2"
        },
        {
          "symbol": "RFX4",
          "ensemblId": "ENSG00000111783",
          "biotype": "protein_coding",
          "start": 106582691,
          "end": 106762803,
          "strand": "+",
          "slug": "rfx4"
        },
        {
          "symbol": "RIC8B",
          "ensemblId": "ENSG00000111785",
          "biotype": "protein_coding",
          "start": 106774322,
          "end": 106889316,
          "strand": "+",
          "slug": "ric8b"
        }
      ],
      "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": [
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/pelizaeus-merzbacher-and-hypomyelinating-leukodystrophies"
      },
      {
        "slug": "polr3b-related-disorder",
        "name": "Νόσος που σχετίζεται με το POLR3B",
        "diseases": [
          {
            "mondoId": "MONDO:0700277",
            "name": "Νόσος που σχετίζεται με το POLR3B",
            "genes": 1,
            "inheritance": null,
            "description": "Οι μεταβολές και στα δύο αντίγραφα του POLR3B προκαλούν λευκοδυστροφία με υπομυελίνωση που σχετίζεται με το POLR3 (λευκοδυστροφία 4H), κατά την οποία η λευκή ουσία του εγκεφάλου σχηματίζεται ανεπαρκώς. Το POLR3B αποτελεί μέρος της RNA πολυμεράσης III, η οποία παράγει μορφές RNA, όπως το rRNA και το tRNA, που χρειάζονται τα κύτταρα.",
            "management": "Η φροντίδα περιλαμβάνει φυσιοθεραπεία και υποστήριξη κινητικότητας, οδοντιατρική φροντίδα και εκτίμηση των ορμονών με θεραπεία όταν χρειάζεται. Η γενετική συμβουλευτική εξηγεί την υπολειπόμενη κληρονομικότητα, και μπορεί να προσφερθεί έλεγχος φορέων στους συγγενείς.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/polr3b-related-disorder"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Νόσος Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Νόσος Charcot-Marie-Tooth",
            "genes": 62,
            "inheritance": null,
            "description": "Μια ομάδα κληρονομικών περιφερικών νευροπαθειών που προκαλούν προοδευτική αδυναμία και ατροφία των απομακρυσμένων μυών και απώλεια αισθητικότητας, κυρίως στα πόδια και στα χέρια.",
            "management": "Γενετική συμβουλευτική, παρακολούθηση ανάλογα με τον υποτύπο, φυσικοθεραπεία, ορθωτικές συσκευές, αποφυγή νευροτοξικών φαρμάκων, κλινικές μελέτες ειδικές για συγκεκριμένα γονίδια, επιτήρηση για συναφή χαρακτηριστικά",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "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": [
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "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": [
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/leukodystrophy"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Σπάνιες κληρονομικές περιφερικές νευροπάθειες",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Κληρονομική περιφερική νευροπάθεια",
            "genes": 233,
            "inheritance": null,
            "description": "Προκαλείται από μεταβολές σε ένα από τα πολλά γονίδια που είναι απαραίτητα για τη διατήρηση της υγείας των μακριών νευρικών ινών. Σε αυτή την αναφορά, μεταξύ αυτών περιλαμβάνονται τα IGHMBP2 και PLEKHG5, τα οποία είναι υπολειπόμενα.",
            "management": "Η φυσικοθεραπεία, οι ορθώσεις και η εργοθεραπεία βοηθούν στη διατήρηση της κινητικότητας, με χειρουργική επέμβαση για παραμορφώσεις των ποδιών όταν χρειάζεται. Ορισμένες μορφές απαιτούν παρακολούθηση της αναπνοής. Η γενετική συμβουλευτική καθοδηγεί τον έλεγχο της οικογένειας σύμφωνα με τον τρόπο κληρονομικότητας του εμπλεκόμενου γονιδίου.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormality-of-ocular-smooth-pursuit",
        "name": "Abnormality of ocular smooth pursuit",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-ocular-smooth-pursuit"
      },
      {
        "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": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "natal-tooth",
        "name": "Born with teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/natal-tooth"
      },
      {
        "slug": "cerebellar-vermis-atrophy",
        "name": "Cerebellar vermis atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy"
      },
      {
        "slug": "cerebral-hypomyelination",
        "name": "Cerebral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-hypomyelination"
      },
      {
        "slug": "chiari-type-i-malformation",
        "name": "Chiari type I malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chiari-type-i-malformation"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "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-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dysdiadochokinesis",
        "name": "Difficulty performing quick and alternating movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysdiadochokinesis"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "gaze-evoked-nystagmus",
        "name": "Gaze-evoked nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "hypergonadotropic-hypogonadism",
        "name": "Hypergonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism"
      },
      {
        "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": "impaired-distal-proprioception",
        "name": "Impaired distal proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-distal-proprioception"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "impaired-horizontal-smooth-pursuit",
        "name": "Impaired horizontal smooth pursuit",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-horizontal-smooth-pursuit"
      },
      {
        "slug": "impairment-of-activities-of-daily-living",
        "name": "Impairment of activities of daily living",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impairment-of-activities-of-daily-living"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "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": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "dysmetria",
        "name": "Lack of coordination of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysmetria"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "thin-corpus-callosum",
        "name": "Thin corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-corpus-callosum"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "vertical-supranuclear-gaze-palsy",
        "name": "Vertical supranuclear gaze palsy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertical-supranuclear-gaze-palsy"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 4,
        "url": "https://dantelabs.com/el/genes/aars1"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/arsa"
      },
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/cyp27a1"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/dync1h1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/ears2"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/fig4"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "name": "galactosylceramidase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/galc"
      },
      {
        "slug": "gars1",
        "symbol": "GARS1",
        "name": "glycyl-tRNA synthetase 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/gars1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "name": "heat shock protein family B (small) member 8",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/hspb8"
      },
      {
        "slug": "ighmbp2",
        "symbol": "IGHMBP2",
        "name": "immunoglobulin mu DNA binding protein 2",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/ighmbp2"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "name": "peroxisomal biogenesis factor 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/pex1"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "name": "peroxisomal biogenesis factor 10",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/pex10"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}