{
  "url": "https://dantelabs.com/ro/genes/zfhx3",
  "gene": {
    "slug": "zfhx3",
    "symbol": "ZFHX3",
    "name": "zinc finger homeobox 3",
    "hgnc": "HGNC:777",
    "summary": null,
    "location": "16q22.2-q22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ZNF927",
      "FLJ26184"
    ],
    "previousSymbols": [
      "ATBF1",
      "C16orf47"
    ],
    "ensemblId": "ENSG00000140836",
    "entrezId": 463,
    "omim": [
      "104155"
    ],
    "uniprot": [
      "Q15911"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 72782885,
      "end": 73048128,
      "strand": "-",
      "ensemblTranscript": "ENST00000268489.10",
      "refseqTranscript": "NM_006885.4",
      "ensemblProtein": "ENSP00000268489.5",
      "refseqProtein": "NP_008816.3",
      "exons": [
        {
          "start": 72782885,
          "end": 72788848
        },
        {
          "start": 72793255,
          "end": 72798714
        },
        {
          "start": 72800027,
          "end": 72800129
        },
        {
          "start": 72811577,
          "end": 72811777
        },
        {
          "start": 72811905,
          "end": 72812038
        },
        {
          "start": 72829779,
          "end": 72829859
        },
        {
          "start": 72889731,
          "end": 72889962
        },
        {
          "start": 72950469,
          "end": 72950965
        },
        {
          "start": 72957427,
          "end": 72960194
        },
        {
          "start": 73047752,
          "end": 73048128
        }
      ],
      "cds": {
        "start": 72787164,
        "end": 72960145
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 72816784,
      "end": 73093597,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 72415507,
      "end": 73415506,
      "genes": [],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autosomal-dominant-cerebellar-ataxias",
        "name": "Ataxiile cerebeloase autozomal dominante (SCA și DRPLA)",
        "diseases": [
          {
            "mondoId": "MONDO:0020380",
            "name": "Ataxie cerebeloasă autozomal dominantă",
            "genes": 36,
            "inheritance": "autosomal-dominant",
            "description": "Un grup de ataxii cu transmitere dominantă, inclusiv SCA1, SCA2, SCA3 (boala Machado-Joseph), SCA6, SCA7, SCA17, SCA27B și DRPLA, cauzate de expansiuni de repetiții sau variante punctiforme în gene precum ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 și FGF14.",
            "management": "Consiliere genetică și testare presimptomatică pentru rude, kinetoterapie și managementul simptomelor; unele forme, cum este SCA27B, pot răspunde la un tratament medicamentos specific.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/autosomal-dominant-cerebellar-ataxias"
      },
      {
        "slug": "syndromic-complex-neurodevelopmental-disorder",
        "name": "Tulburare neurodezvoltamentală sindromică complexă",
        "diseases": [
          {
            "mondoId": "MONDO:0800439",
            "name": "Tulburare neurodezvoltamentală sindromică complexă",
            "genes": 23,
            "inheritance": null,
            "description": "Un grup de afecțiuni care au în comun întârzierea în dezvoltare, cu manifestări care depășesc sfera creierului, fiecare fiind cauzată de modificări ale unei singure gene. Unele dintre genele incluse, precum ANKRD17, ASH1L și MYT1L, provoacă boala atunci când se modifică o copie, de obicei de novo; boala legată de AFG2A necesită modificări la ambele copii.",
            "management": "Sprijin în dezvoltare, educațional și terapeutic, cu evaluări pentru convulsii, creștere, vedere, auz și alte manifestări la nivelul organelor, sugerate de gena specifică. Consilierea genetică depinde de genă: testarea părinților pentru modificări dominante de novo și testarea purtătorilor pentru formele recesive.",
            "evidence": {
              "gencc": [
                "Broad Center for Mendelian Genomics"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/syndromic-complex-neurodevelopmental-disorder"
      },
      {
        "slug": "epilepsy-report",
        "name": "Epilepsie (panel complet)",
        "diseases": [
          {
            "mondoId": "MONDO:0005027",
            "name": "Epilepsie",
            "genes": 171,
            "inheritance": null,
            "description": "O tulburare cerebrală caracterizată prin episoade de descărcare neuronală anormal de intensă, care duc la episoade tranzitorii de disfuncție neurologică senzorială sau motorie ori de disfuncție psihică. Aceste episoade pot fi sau nu asociate cu pierderea cunoștinței sau cu convulsii.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/epilepsy-report"
      },
      {
        "slug": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Tulburări neurodegenerative ereditare",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Tulburare neurodegenerativă asociată cu KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Cauzată de modificări ale unei copii a genei KIF5A, care codifică o proteină motorie cu o coadă de legare a cargoului. Diferite tipuri de modificări duc la afecțiuni diferite: paraplegie spastică ereditară de tip 10, o formă axonală a bolii Charcot-Marie-Tooth și scleroza laterală amiotrofică (SLA).",
            "management": "Tratamentul este simptomatic și depinde de manifestări, incluzând kinetoterapie, medicamente antispastice și îngrijire multidisciplinară pentru SLA. Fiecare copil al unei persoane afectate are o șansă de 1 din 2 de a moșteni modificarea; consilierea genetică ajută familiile să înțeleagă acest lucru.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/inherited-neurodegenerative-disorders-selected-genes"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure-with-focal-onset",
        "name": "Bilateral tonic-clonic seizure with focal onset",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "eeg-with-central-sharp-slow-waves",
        "name": "EEG with central sharp slow waves",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-with-central-sharp-slow-waves"
      },
      {
        "slug": "eeg-with-focal-sharp-slow-waves",
        "name": "EEG with focal sharp slow waves",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-with-focal-sharp-slow-waves"
      },
      {
        "slug": "eeg-with-frontal-sharp-slow-waves",
        "name": "EEG with frontal sharp slow waves",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-with-frontal-sharp-slow-waves"
      },
      {
        "slug": "eeg-with-occipital-sharp-slow-waves",
        "name": "EEG with occipital sharp slow waves",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-with-occipital-sharp-slow-waves"
      },
      {
        "slug": "eeg-with-temporal-sharp-slow-waves",
        "name": "EEG with temporal sharp slow waves",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/eeg-with-temporal-sharp-slow-waves"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "impaired-smooth-pursuit",
        "name": "Impaired smooth pursuit",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/impaired-smooth-pursuit"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "progressive-cerebellar-ataxia",
        "name": "Progressive cerebellar ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia"
      },
      {
        "slug": "prostate-cancer",
        "name": "Prostate cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/prostate-cancer"
      },
      {
        "slug": "atrial-fibrillation",
        "name": "Quivering upper heart chambers resulting in irregular heartbeat",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/atrial-fibrillation"
      },
      {
        "slug": "simple-febrile-seizure",
        "name": "Simple febrile seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/simple-febrile-seizure"
      },
      {
        "slug": "status-epilepticus-without-prominent-motor-symptoms",
        "name": "Status epilepticus without prominent motor symptoms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/status-epilepticus-without-prominent-motor-symptoms"
      },
      {
        "slug": "limb-dysmetria",
        "name": "Uncoordinated limb movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/limb-dysmetria"
      }
    ],
    "related": [
      {
        "slug": "atp1a3",
        "symbol": "ATP1A3",
        "name": "ATPase Na+/K+ transporting subunit alpha 3",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/atp1a3"
      },
      {
        "slug": "cacna1a",
        "symbol": "CACNA1A",
        "name": "calcium voltage-gated channel subunit alpha1 A",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/cacna1a"
      },
      {
        "slug": "pum1",
        "symbol": "PUM1",
        "name": "pumilio RNA binding family member 1",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/pum1"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/aars1"
      },
      {
        "slug": "afg3l2",
        "symbol": "AFG3L2",
        "name": "AFG3 like matrix AAA peptidase subunit 2",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/afg3l2"
      },
      {
        "slug": "atn1",
        "symbol": "ATN1",
        "name": "atrophin 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atn1"
      },
      {
        "slug": "atxn1",
        "symbol": "ATXN1",
        "name": "ataxin 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atxn1"
      },
      {
        "slug": "atxn10",
        "symbol": "ATXN10",
        "name": "ataxin 10",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atxn10"
      },
      {
        "slug": "atxn2",
        "symbol": "ATXN2",
        "name": "ataxin 2",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atxn2"
      },
      {
        "slug": "atxn3",
        "symbol": "ATXN3",
        "name": "ataxin 3",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atxn3"
      },
      {
        "slug": "atxn7",
        "symbol": "ATXN7",
        "name": "ataxin 7",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atxn7"
      },
      {
        "slug": "bean1",
        "symbol": "BEAN1",
        "name": "brain expressed associated with NEDD4 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/bean1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}