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"znf428" }, { "symbol": "CADM4", "ensemblId": "ENSG00000105767", "biotype": "protein_coding", "start": 43622055, "end": 43639858, "strand": "-", "slug": "cadm4" }, { "symbol": "PLAUR", "ensemblId": "ENSG00000011422", "biotype": "protein_coding", "start": 43645672, "end": 43670547, "strand": "-", "slug": "plaur" }, { "symbol": "IRGC", "ensemblId": "ENSG00000124449", "biotype": "protein_coding", "start": 43716076, "end": 43720021, "strand": "+", "slug": "irgc" }, { "symbol": "SMG9", "ensemblId": "ENSG00000105771", "biotype": "protein_coding", "start": 43727983, "end": 43755605, "strand": "-", "slug": "smg9" }, { "symbol": "KCNN4", "ensemblId": "ENSG00000104783", "biotype": "protein_coding", "start": 43766517, "end": 43781262, "strand": "-", "slug": "kcnn4" }, { "symbol": "LYPD5", "ensemblId": "ENSG00000159871", "biotype": "protein_coding", "start": 43785874, "end": 43827206, "strand": "-", "slug": "lypd5" }, { "symbol": "ZNF283", "ensemblId": "ENSG00000167637", "biotype": "protein_coding", "start": 43827297, "end": 43852017, "strand": "+", "slug": "znf283" }, { "symbol": "ZNF404", "ensemblId": "ENSG00000176222", "biotype": "protein_coding", "start": 43864321, "end": 43901831, "strand": "-", "slug": "znf404" }, { "symbol": "ZNF45", "ensemblId": "ENSG00000124459", "biotype": "protein_coding", "start": 43910549, "end": 43935306, "strand": "-", "slug": "znf45" }, { "symbol": "ZNF221", "ensemblId": "ENSG00000159905", "biotype": "protein_coding", "start": 43951204, "end": 43972739, "strand": "+", "slug": "znf221" }, { "symbol": "ZNF155", "ensemblId": "ENSG00000204920", "biotype": "protein_coding", "start": 43967862, "end": 43998326, "strand": "+", "slug": "znf155" }, { "symbol": "ZNF230", "ensemblId": "ENSG00000159882", "biotype": "protein_coding", "start": 44002934, "end": 44013924, "strand": "+", "slug": "znf230" }, { "symbol": "ZNF222", "ensemblId": "ENSG00000159885", "biotype": "protein_coding", "start": 44025326, "end": 44033222, "strand": "+", "slug": "znf222" }, { "symbol": "", "ensemblId": "ENSG00000267022", "biotype": "protein_coding", "start": 44025354, "end": 44087318, "strand": "+" }, { "symbol": "ZNF223", "ensemblId": "ENSG00000178386", "biotype": "protein_coding", "start": 44051367, "end": 44069308, "strand": "+", "slug": "znf223" } ], "truncated": false }, "reports": [ { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomale recessieve cerebellaire ataxieën (waaronder CANVAS en AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomale recessieve cerebellaire ataxie", "genes": 57, "inheritance": "autosomal-recessive", "description": "Een groep recessief overgeërfde ataxieën, veroorzaakt door biallelische varianten in genen zoals RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 en SYNE1.", "management": "Ataxie met vitamine E-tekort (TTPA) kan worden behandeld met vitamine E-supplementen; andere vormen worden behandeld met fysiotherapie en symptoombestrijding, en aan familieleden kan een draagstertest worden aangeboden.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/autosomal-recessive-cerebellar-ataxias" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Erfelijke neurodegeneratieve aandoeningen", "diseases": [ { "mondoId": "MONDO:0024237", "name": "Met KIF5A samenhangende neurodegeneratieve aandoening", "genes": 372, "inheritance": "autosomal-dominant", "description": "Veroorzaakt door veranderingen in één kopie van KIF5A, een motoreiwit met een staart die vracht bindt. Verschillende soorten veranderingen leiden tot verschillende aandoeningen: hereditaire spastische paraplegie type 10, een axonale vorm van de ziekte van Charcot-Marie-Tooth en amyotrofe laterale sclerose (ALS).", "management": "De zorg is symptomatisch en hangt af van het ziektebeeld; zij omvat fysiotherapie, medicijnen tegen spasticiteit en multidisciplinaire ALS-zorg. Elk kind van een aangedane persoon heeft een kans van 1 op 2 om de verandering te erven; erfelijkheidsadvies helpt gezinnen dit te begrijpen.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "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": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "hypermetric-saccades", "name": "Hypermetric saccades", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypermetric-saccades" }, { "slug": "impaired-distal-proprioception", "name": "Impaired distal proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "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": "obligate", "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "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": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "positive-romberg-sign", "name": "Positive Romberg sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/positive-romberg-sign" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-muscle-weakness" } ], "related": [ { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper integration site 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/ahi1" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 2, "url": "https://dantelabs.com/nl/genes/ano10" }, { "slug": "atcay", "symbol": "ATCAY", "name": "ATCAY kinesin light chain interacting caytaxin", "shared": 2, "url": "https://dantelabs.com/nl/genes/atcay" }, { "slug": "atg7", "symbol": "ATG7", "name": "autophagy related 7", "shared": 2, "url": "https://dantelabs.com/nl/genes/atg7" }, { "slug": "atp8a2", "symbol": "ATP8A2", "name": "ATPase phospholipid transporting 8A2", "shared": 2, "url": "https://dantelabs.com/nl/genes/atp8a2" }, { "slug": "ca8", "symbol": "CA8", "name": "carbonic anhydrase 8 (inactive)", "shared": 2, "url": "https://dantelabs.com/nl/genes/ca8" }, { "slug": "cc2d2a", "symbol": "CC2D2A", "name": "coiled-coil and C2 domain containing 2A", "shared": 2, "url": "https://dantelabs.com/nl/genes/cc2d2a" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 2, "url": "https://dantelabs.com/nl/genes/cep290" }, { "slug": "cep41", "symbol": "CEP41", "name": "centrosomal protein 41", "shared": 2, "url": "https://dantelabs.com/nl/genes/cep41" }, { "slug": "coa7", "symbol": "COA7", "name": "cytochrome c oxidase assembly factor 7", "shared": 2, "url": "https://dantelabs.com/nl/genes/coa7" }, { "slug": "coq8a", "symbol": "COQ8A", "name": "coenzyme Q8A", "shared": 2, "url": "https://dantelabs.com/nl/genes/coq8a" }, { "slug": "cspp1", "symbol": "CSPP1", "name": "centrosome and spindle pole associated protein 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/cspp1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }