{ "url": "https://dantelabs.com/no/genes/ctnnd1", "gene": { "slug": "ctnnd1", "symbol": "CTNND1", "name": "catenin delta 1", "hgnc": "HGNC:2515", "summary": null, "location": "11q12.1", "locusType": "gene with protein product", "aliases": [ "KIAA0384", "p120", "p120cas", "p120ctn" ], "previousSymbols": [ "CTNND" ], "ensemblId": "ENSG00000198561", "entrezId": 1500, "omim": [ "601045" ], "uniprot": [ "O60716" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 57761802, "end": 57819540, "strand": "+", "ensemblTranscript": "ENST00000399050.10", "refseqTranscript": "NM_001085458.2", "ensemblProtein": "ENSP00000382004.5", "refseqProtein": "NP_001078927.1", "exons": [ { "start": 57761802, "end": 57762119 }, { "start": 57789037, "end": 57789155 }, { "start": 57791385, "end": 57791673 }, { "start": 57794010, "end": 57794081 }, { "start": 57795577, "end": 57795729 }, { "start": 57796457, "end": 57796992 }, { "start": 57801733, "end": 57802196 }, { "start": 57803621, 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"protein_coding", "start": 57645087, "end": 57649944, "strand": "-", "slug": "ypel4" }, { "symbol": "ZDHHC5", "ensemblId": "ENSG00000156599", "biotype": "protein_coding", "start": 57667433, "end": 57702260, "strand": "+", "slug": "zdhhc5" }, { "symbol": "MED19", "ensemblId": "ENSG00000156603", "biotype": "protein_coding", "start": 57703710, "end": 57712348, "strand": "-", "slug": "med19" }, { "symbol": "TMX2", "ensemblId": "ENSG00000213593", "biotype": "protein_coding", "start": 57712365, "end": 57742987, "strand": "+", "slug": "tmx2" }, { "symbol": "", "ensemblId": "ENSG00000288534", "biotype": "protein_coding", "start": 57712582, "end": 57818431, "strand": "+" }, { "symbol": "SELENOH", "ensemblId": "ENSG00000211450", "biotype": "protein_coding", "start": 57741491, "end": 57743554, "strand": "+", "slug": "selenoh" }, { "symbol": "", "ensemblId": "ENSG00000254732", "biotype": "protein_coding", "start": 57741779, "end": 57804771, "strand": "+" }, { "symbol": "BTBD18", "ensemblId": "ENSG00000233436", "biotype": "protein_coding", "start": 57743514, "end": 57753148, "strand": "-", "slug": "btbd18" }, { "symbol": "OR9Q1", "ensemblId": "ENSG00000186509", "biotype": "protein_coding", "start": 58023881, "end": 58181616, "strand": "+", "slug": "or9q1" }, { "symbol": "OR6Q1", "ensemblId": "ENSG00000279051", "biotype": "protein_coding", "start": 58030953, "end": 58031906, "strand": "+", "slug": "or6q1" }, { "symbol": "OR9I1", "ensemblId": "ENSG00000172377", "biotype": "protein_coding", "start": 58116742, "end": 58125530, "strand": "-", "slug": "or9i1" }, { "symbol": "OR9Q2", "ensemblId": "ENSG00000186513", "biotype": "protein_coding", "start": 58189070, "end": 58194053, "strand": "+", "slug": "or9q2" }, { "symbol": "OR1S2", "ensemblId": "ENSG00000197887", "biotype": "protein_coding", "start": 58203204, "end": 58204142, "strand": "-", "slug": "or1s2" }, { "symbol": "OR1S1", "ensemblId": "ENSG00000280204", "biotype": "protein_coding", "start": 58212720, "end": 58216084, "strand": "+", "slug": "or1s1" }, { "symbol": "OR10Q1", "ensemblId": "ENSG00000180475", "biotype": "protein_coding", "start": 58227882, "end": 58228918, "strand": "-", "slug": "or10q1" }, { "symbol": "OR10W1", "ensemblId": "ENSG00000172772", "biotype": "protein_coding", "start": 58266792, "end": 58268260, "strand": "-", "slug": "or10w1" } ], "truncated": false }, "reports": [ { "slug": "blepharocheilodontic-syndrome-2-ctnnd1", "name": "Blepharocheilodontisk syndrom 2 (CTNND1)", "diseases": [ { "mondoId": "MONDO:0040503", "name": "Blepharocheilodontisk syndrom 2 (CTNND1)", "genes": 1, "inheritance": "autosomal-dominant", "description": "Skyldes endringer i én kopi av CTNND1-genet, som bidrar til at celler holder sammen under utviklingen av ansiktet. Endringene fører vanligvis til at én kopi ikke fungerer; de kan være arvet fra en forelder eller oppstå på nytt.", "management": "Behandlingen omfatter øyesmøring og øyelokkskirurgi for å beskytte øyeoverflaten, spaltekirurgi, samt tann- og kjevebehandling. Genetisk veiledning anbefales: hvert barn av en person med tilstanden har 50 % sjanse for å arve endringen, og testing av foreldre kan bidra til å avklare risikoen for gjentakelse.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/blepharocheilodontic-syndrome-2-ctnnd1" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-hair-quantity", "name": "Abnormal hair quantity", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-hair-quantity" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormal-eyelid-morphology", "name": "Abnormality of the eyelid", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-eyelid-morphology" }, { "slug": "abnormality-of-vision", "name": "Abnormality of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-vision" }, { "slug": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "cleft-lip", "name": "Cleft lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cleft-lip" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "conical-tooth", "name": "Cone shaped tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/conical-tooth" }, { "slug": "cutaneous-syndactyly", "name": "Cutaneous syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cutaneous-syndactyly" }, { "slug": "tooth-agenesis", "name": "Decreased number of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tooth-agenesis" }, { "slug": "carious-teeth", "name": "Dental cavities", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/carious-teeth" }, { "slug": "distichiasis", "name": "Distichiasis", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/distichiasis" }, { "slug": "epidermoid-cyst", "name": "Epidermoid cyst", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epidermoid-cyst" }, { "slug": "euryblepharon", "name": "Euryblepharon", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/euryblepharon" }, { "slug": "lagophthalmos", "name": "Eyelids stay open", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lagophthalmos" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/finger-syndactyly" }, { "slug": "flat-face", "name": "Flat face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/flat-face" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "ectropion-of-lower-eyelids", "name": "Lower eyelid folded out", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ectropion-of-lower-eyelids" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }