{ "url": "https://dantelabs.com/nl/genes/zbtb11", "gene": { "slug": "zbtb11", "symbol": "ZBTB11", "name": "zinc finger and BTB domain containing 11", "hgnc": "HGNC:16740", "summary": null, "location": "3q12.3", "locusType": "gene with protein product", "aliases": [ "ZNF-U69274", "ZNF913" ], "previousSymbols": [], "ensemblId": "ENSG00000066422", "entrezId": 27107, "omim": [ "618181" ], "uniprot": [ "O95625" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 101648889, "end": 101677132, "strand": "-", "ensemblTranscript": "ENST00000312938.5", "refseqTranscript": "NM_014415.4", "ensemblProtein": "ENSP00000326200.4", "refseqProtein": "NP_055230.2", "exons": [ { "start": 101648889, "end": 101651683 }, { "start": 101652496, "end": 101652671 }, { "start": 101652780, "end": 101652938 }, { "start": 101654704, "end": 101654821 }, { "start": 101656104, "end": 101656248 }, { "start": 101659783, "end": 101660028 }, { "start": 101664538, "end": 101664714 }, { "start": 101664964, "end": 101665808 }, { "start": 101671130, "end": 101671361 }, { "start": 101671978, "end": 101672213 }, { "start": 101676605, "end": 101677132 } ], "cds": { "start": 101651166, "end": 101676914 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 101367733, "end": 101396339, "strand": "-" }, "neighbourhood": { "release": "116", "start": 101163011, "end": 102163010, "genes": [ { "symbol": "IMPG2", "ensemblId": "ENSG00000081148", "biotype": "protein_coding", "start": 101222546, "end": 101320575, "strand": "-", "slug": "impg2" }, { "symbol": "SENP7", "ensemblId": "ENSG00000138468", "biotype": "protein_coding", "start": 101324205, "end": 101513241, "strand": "-", "slug": "senp7" }, { "symbol": "TRMT10C", "ensemblId": "ENSG00000174173", "biotype": "protein_coding", "start": 101561834, "end": 101566446, "strand": "+", "slug": "trmt10c" }, { "symbol": "PCNP", "ensemblId": "ENSG00000081154", "biotype": "protein_coding", "start": 101574083, "end": 101594510, "strand": "+", "slug": "pcnp" }, { "symbol": "RPL24", "ensemblId": "ENSG00000114391", "biotype": "protein_coding", "start": 101677660, "end": 101686825, "strand": "-", "slug": "rpl24" }, { "symbol": "", "ensemblId": "ENSG00000293268", "biotype": "protein_coding", "start": 101686827, "end": 101713301, "strand": "+" }, { "symbol": "CEP97", "ensemblId": "ENSG00000182504", "biotype": "protein_coding", "start": 101724534, "end": 101770562, "strand": "+", "slug": "cep97" }, { "symbol": "NXPE3", "ensemblId": "ENSG00000144815", "biotype": "protein_coding", "start": 101778900, "end": 101843743, "strand": "+", "slug": "nxpe3" }, { "symbol": "NFKBIZ", "ensemblId": "ENSG00000144802", "biotype": "protein_coding", "start": 101827991, "end": 101861022, "strand": "+", "slug": "nfkbiz" }, { "symbol": "ZPLD1", "ensemblId": "ENSG00000170044", "biotype": "protein_coding", "start": 102099244, "end": 102479841, "strand": "+", "slug": "zpld1" } ], "truncated": false }, "reports": [ { "slug": "syndromic-complex-neurodevelopmental-disorder", "name": "Syndromische complexe neurologische ontwikkelingsstoornis", "diseases": [ { "mondoId": "MONDO:0800439", "name": "Syndromische complexe neurologische ontwikkelingsstoornis", "genes": 23, "inheritance": null, "description": "Een groep aandoeningen die ontwikkelingsachterstand gemeen hebben, met kenmerken die verder reiken dan de hersenen. Elk wordt veroorzaakt door veranderingen in één gen. Sommige van de hier genoemde genen, zoals ANKRD17, ASH1L en MYT1L, veroorzaken ziekte wanneer één kopie is veranderd, meestal de novo; bij AFG2A-gerelateerde ziekte moeten beide kopieën zijn veranderd.", "management": "Ondersteuning op het gebied van ontwikkeling, onderwijs en therapie, met onderzoek naar epileptische aanvallen, groei, zicht, gehoor en andere orgaankenmerken die door het specifieke gen worden gesuggereerd. Genetische counseling hangt af van het gen: testen van de ouders bij de novo dominante veranderingen en draagstertesten bij recessieve vormen.", "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/syndromic-complex-neurodevelopmental-disorder" }, { "slug": "intellectual-disability", "name": "Intellectuele beperking", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intellectuele beperking", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/nl/conditions/intellectual-disability" } ], "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": "frequent", "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": "hyperplasia-of-the-maxilla", "name": "Big maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hyperplasia-of-the-maxilla" }, { "slug": "facial-hypotonia", "name": "Decreased facial muscle tone", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/facial-hypotonia" }, { "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-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": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "drooling", "name": "Drooling", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/drooling" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" } ], "related": [ { "slug": "ap1s2", "symbol": "AP1S2", "name": "adaptor related protein complex 1 subunit sigma 2", "shared": 2, "url": "https://dantelabs.com/nl/genes/ap1s2" }, { "slug": "ash1l", "symbol": "ASH1L", "name": "ASH1 like histone lysine methyltransferase", "shared": 2, "url": "https://dantelabs.com/nl/genes/ash1l" }, { "slug": "brpf1", "symbol": "BRPF1", "name": "bromodomain and PHD finger containing 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/brpf1" }, { "slug": "myt1l", "symbol": "MYT1L", "name": "myelin transcription factor 1 like", "shared": 2, "url": "https://dantelabs.com/nl/genes/myt1l" }, { "slug": "qrich1", "symbol": "QRICH1", "name": "glutamine rich 1", "shared": 2, "url": "https://dantelabs.com/nl/genes/qrich1" }, { "slug": "setd5", "symbol": "SETD5", "name": "SET domain containing 5", "shared": 2, "url": "https://dantelabs.com/nl/genes/setd5" }, { "slug": "tfe3", "symbol": "TFE3", "name": "transcription factor binding to IGHM enhancer 3", "shared": 2, "url": "https://dantelabs.com/nl/genes/tfe3" }, { "slug": "zfx", "symbol": "ZFX", "name": "zinc finger protein X-linked", "shared": 2, "url": "https://dantelabs.com/nl/genes/zfx" }, { "slug": "zmynd11", "symbol": "ZMYND11", "name": "zinc finger MYND-type containing 11", "shared": 2, "url": "https://dantelabs.com/nl/genes/zmynd11" }, { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/nl/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/nl/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/nl/genes/adnp" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }