{ "url": "https://dantelabs.com/nl/genes/zcchc8", "gene": { "slug": "zcchc8", "symbol": "ZCCHC8", "name": "zinc finger CCHC-type containing 8", "hgnc": "HGNC:25265", "summary": null, "location": "12q24.31", "locusType": "gene with protein product", "aliases": [ "DKFZp434E2220" ], "previousSymbols": [], "ensemblId": "ENSG00000033030", "entrezId": 55596, "omim": [ "616381" ], "uniprot": [ "Q6NZY4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 122471600, "end": 122500932, "strand": "-", "ensemblTranscript": "ENST00000633063.3", "refseqTranscript": "NM_017612.5", "ensemblProtein": "ENSP00000488055.1", "refseqProtein": "NP_060082.2", "exons": [ { "start": 122471600, "end": 122474275 }, { "start": 122477841, "end": 122477958 }, { "start": 122478206, "end": 122478292 }, { "start": 122480190, "end": 122480311 }, { "start": 122481522, "end": 122481664 }, { "start": 122481945, "end": 122482087 }, { "start": 122482635, "end": 122482695 }, { "start": 122483279, "end": 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"LRRC43", "ensemblId": "ENSG00000158113", "biotype": "protein_coding", "start": 122167738, "end": 122203471, "strand": "+", "slug": "lrrc43" }, { "symbol": "IL31", "ensemblId": "ENSG00000204671", "biotype": "protein_coding", "start": 122172029, "end": 122174221, "strand": "-", "slug": "il31" }, { "symbol": "B3GNT4", "ensemblId": "ENSG00000176383", "biotype": "protein_coding", "start": 122203681, "end": 122208952, "strand": "+", "slug": "b3gnt4" }, { "symbol": "DIABLO", "ensemblId": "ENSG00000184047", "biotype": "protein_coding", "start": 122207394, "end": 122226083, "strand": "-", "slug": "diablo" }, { "symbol": "", "ensemblId": "ENSG00000284934", "biotype": "protein_coding", "start": 122207662, "end": 122227534, "strand": "-" }, { "symbol": "", "ensemblId": "ENSG00000256861", "biotype": "protein_coding", "start": 122207779, "end": 122266423, "strand": "-" }, { "symbol": "VPS33A", "ensemblId": "ENSG00000139719", "biotype": "protein_coding", "start": 122229564, "end": 122266502, "strand": "-", "slug": "vps33a" }, { "symbol": "CLIP1", "ensemblId": "ENSG00000130779", "biotype": "protein_coding", "start": 122271432, "end": 122422778, "strand": "-", "slug": "clip1" }, { "symbol": "RSRC2", "ensemblId": "ENSG00000111011", "biotype": "protein_coding", "start": 122503454, "end": 122527100, "strand": "-", "slug": "rsrc2" }, { "symbol": "KNTC1", "ensemblId": "ENSG00000184445", "biotype": "protein_coding", "start": 122527246, "end": 122628182, "strand": "+", "slug": "kntc1" }, { "symbol": "HCAR2", "ensemblId": "ENSG00000182782", "biotype": "protein_coding", "start": 122701293, "end": 122703357, "strand": "-", "slug": "hcar2" }, { "symbol": "HCAR3", "ensemblId": "ENSG00000255398", "biotype": "protein_coding", "start": 122714756, "end": 122716811, "strand": "-", "slug": "hcar3" }, { "symbol": "HCAR1", "ensemblId": "ENSG00000196917", "biotype": "protein_coding", "start": 122726076, "end": 122730844, "strand": "-", "slug": "hcar1" }, { "symbol": "DENR", "ensemblId": "ENSG00000139726", "biotype": "protein_coding", "start": 122752824, "end": 122771394, "strand": "+", "slug": "denr" }, { "symbol": "CCDC62", "ensemblId": "ENSG00000130783", "biotype": "protein_coding", "start": 122774517, "end": 122827528, "strand": "+", "slug": "ccdc62" }, { "symbol": "HIP1R", "ensemblId": "ENSG00000130787", "biotype": "protein_coding", "start": 122834453, "end": 122862961, "strand": "+", "slug": "hip1r" }, { "symbol": "VPS37B", "ensemblId": "ENSG00000139722", "biotype": "protein_coding", "start": 122865328, "end": 122896140, "strand": "-", "slug": "vps37b" }, { "symbol": "ABCB9", "ensemblId": "ENSG00000150967", "biotype": "protein_coding", "start": 122918478, "end": 122981649, "strand": "-", "slug": "abcb9" }, { "symbol": "OGFOD2", "ensemblId": "ENSG00000111325", "biotype": "protein_coding", "start": 122974580, "end": 122980044, "strand": "+", "slug": "ogfod2" }, { "symbol": "ARL6IP4", "ensemblId": "ENSG00000182196", "biotype": "protein_coding", "start": 122980045, "end": 122983480, "strand": "+", "slug": "arl6ip4" }, { "symbol": "PITPNM2", "ensemblId": "ENSG00000090975", "biotype": "protein_coding", "start": 122983480, "end": 123151666, "strand": "-", "slug": "pitpnm2" } ], "truncated": false }, "reports": [ { "slug": "dyskeratosis-congenita", "name": "Dyskeratosis Congenita", "diseases": [ { "mondoId": "MONDO:0100137", "name": "Telomeersyndromen", "genes": 16, "inheritance": null, "description": "Aandoeningen met korte telomeren, veroorzaakt door varianten in genen voor het instandhouden van telomeren, zoals TERT, TERC, RTEL1 en PARN. Deze kunnen beenmergfalen, longfibrose en leverziekte veroorzaken, ook zonder de klassieke huidkenmerken.", "management": "Controle van het bloedbeeld, de longen en de lever wordt aanbevolen. De diagnose is daarnaast van belang voor de keuze van de donor en de behandeling bij een stamceltransplantatie.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/dyskeratosis-congenita" }, { "slug": "familial-pulmonary-fibrosis", "name": "Familiale longfibrose", "diseases": [ { "mondoId": "MONDO:0000148", "name": "Telomeergerelateerde longfibrose en/of beenmergfalen", "genes": 7, "inheritance": null, "description": "Varianten in genen voor het in stand houden van telomeren, zoals TERT, TERC, RTEL1 en PARN, kunnen progressieve longfibrose op volwassen leeftijd veroorzaken, soms samen met beenmergfalen of leverziekte.", "management": "Wanneer u dit weet, kan dat leiden tot eerdere controle van uw longen en eerdere behandeling, onderzoek op betrokkenheid van bloed en lever, zorgvuldig gebruik van immunosuppressieve geneesmiddelen rond een transplantatie, en een zorgvuldige keuze van verwante donoren.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/familial-pulmonary-fibrosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "bone-marrow-hypocellularity", "name": "Bone marrow failure", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/bone-marrow-hypocellularity" }, { "slug": "pulmonary-fibrosis", "name": "Pulmonary scarring", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pulmonary-fibrosis" }, { "slug": "short-telomere-length", "name": "Short telomere length", "systems": [ "abnormal-cellular-phenotype" ], "url": "https://dantelabs.com/traits/short-telomere-length" } ], "related": [ { "slug": "naf1", "symbol": "NAF1", "name": "nuclear assembly factor 1 ribonucleoprotein", "shared": 2, "url": "https://dantelabs.com/nl/genes/naf1" }, { "slug": "parn", "symbol": "PARN", "name": "poly(A)-specific ribonuclease", "shared": 2, "url": "https://dantelabs.com/nl/genes/parn" }, { "slug": "pot1", "symbol": "POT1", "name": "protection of telomeres 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/pot1" }, { "slug": "rpa1", "symbol": "RPA1", "name": "replication protein A1", "shared": 2, "url": "https://dantelabs.com/nl/genes/rpa1" }, { "slug": "rtel1", "symbol": "RTEL1", "name": "regulator of telomere elongation helicase 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/rtel1" }, { "slug": "tert", "symbol": "TERT", "name": "telomerase reverse transcriptase", "shared": 2, "url": "https://dantelabs.com/nl/genes/tert" }, { "slug": "acd", "symbol": "ACD", "name": "ACD shelterin complex subunit and telomerase recruitment factor", "shared": 1, "url": "https://dantelabs.com/nl/genes/acd" }, { "slug": "cdca7", "symbol": "CDCA7", "name": "cell division cycle associated 7", "shared": 1, "url": "https://dantelabs.com/nl/genes/cdca7" }, { "slug": "ctc1", "symbol": "CTC1", "name": "CST telomere replication complex component 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/ctc1" }, { "slug": "dnmt3b", "symbol": "DNMT3B", "name": "DNA methyltransferase 3 beta", "shared": 1, "url": "https://dantelabs.com/nl/genes/dnmt3b" }, { "slug": "hells", "symbol": "HELLS", "name": "helicase, lymphoid specific", "shared": 1, "url": "https://dantelabs.com/nl/genes/hells" }, { "slug": "pola2", "symbol": "POLA2", "name": "DNA polymerase alpha 2, accessory subunit", "shared": 1, "url": "https://dantelabs.com/nl/genes/pola2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }