{ "url": "https://dantelabs.com/el/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": "Συνδρομικό Σύνθετο Νευροαναπτυξιακό Διαταραχή", "diseases": [ { "mondoId": "MONDO:0800439", "name": "Συνδρομικό Σύνθετο Νευροαναπτυξιακό Διαταραχή", "genes": 23, "inheritance": null, "description": "Μια ομάδα παθήσεων που έχουν κοινό χαρακτηριστικό την καθυστέρηση ψυχοκινητικής ανάπτυξης με συμπτώματα πέρα από τον εγκέφαλο, καθεμία προκαλούμενη από αλλαγές σε ένα μόνο γονίδιο. Ορισμένα από τα γονίδια εδώ, όπως τα ANKRD17, ASH1L και MYT1L, προκαλούν νόσο όταν αλλάζει ένα αντίγραφο, συνήθως de novo· η νόσος που σχετίζεται με το AFG2A απαιτεί αλλαγές και στα δύο αντίγραφα.", "management": "Υποστήριξη στην ανάπτυξη, την εκπαίδευση και τη θεραπεία, με εκτίμηση για επιληψία, ανάπτυξη, όραση, ακοή και άλλα χαρακτηριστικά οργάνων που υποδεικνύει το συγκεκριμένο γονίδιο. Η γενετική συμβουλευτική εξαρτάται από το γονίδιο: έλεγχος των γονέων για de novo επικρατείς αλλαγές και έλεγχος φορέων για υπολειπόμενες μορφές.", "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/el/conditions/syndromic-complex-neurodevelopmental-disorder" }, { "slug": "intellectual-disability", "name": "Νοητική αναπηρία", "diseases": [ { "mondoId": "MONDO:0001071", "name": "νοητική αναπηρία", "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/el/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/el/genes/ap1s2" }, { "slug": "ash1l", "symbol": "ASH1L", "name": "ASH1 like histone lysine methyltransferase", "shared": 2, "url": "https://dantelabs.com/el/genes/ash1l" }, { "slug": "brpf1", "symbol": "BRPF1", "name": "bromodomain and PHD finger containing 1", "shared": 2, "url": "https://dantelabs.com/el/genes/brpf1" }, { "slug": "myt1l", "symbol": "MYT1L", "name": "myelin transcription factor 1 like", "shared": 2, "url": "https://dantelabs.com/el/genes/myt1l" }, { "slug": "qrich1", "symbol": "QRICH1", "name": "glutamine rich 1", "shared": 2, "url": "https://dantelabs.com/el/genes/qrich1" }, { "slug": "setd5", "symbol": "SETD5", "name": "SET domain containing 5", "shared": 2, "url": "https://dantelabs.com/el/genes/setd5" }, { "slug": "tfe3", "symbol": "TFE3", "name": "transcription factor binding to IGHM enhancer 3", "shared": 2, "url": "https://dantelabs.com/el/genes/tfe3" }, { "slug": "zfx", "symbol": "ZFX", "name": "zinc finger protein X-linked", "shared": 2, "url": "https://dantelabs.com/el/genes/zfx" }, { "slug": "zmynd11", "symbol": "ZMYND11", "name": "zinc finger MYND-type containing 11", "shared": 2, "url": "https://dantelabs.com/el/genes/zmynd11" }, { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/el/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/el/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/el/genes/adnp" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }