{ "url": "https://dantelabs.com/pl/genes/lrrc56", "gene": { "slug": "lrrc56", "symbol": "LRRC56", "name": "leucine rich repeat containing 56", "hgnc": "HGNC:25430", "summary": null, "location": "11p15.5", "locusType": "gene with protein product", "aliases": [ "FLJ00101", "oda8", "DKFZp761L1518", "DNAAF12" ], "previousSymbols": [], "ensemblId": "ENSG00000161328", "entrezId": 115399, "omim": [ "618227" ], "uniprot": [ "Q8IYG6" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 537527, "end": 554912, "strand": "+", "ensemblTranscript": "ENST00000270115.8", "refseqTranscript": "NM_198075.4", "ensemblProtein": "ENSP00000270115.7", "refseqProtein": "NP_932341.1", "exons": [ { "start": 537527, "end": 537605 }, { "start": 538598, "end": 538860 }, { "start": 539580, "end": 539726 }, { "start": 540674, "end": 540861 }, { "start": 541537, "end": 541624 }, { "start": 544720, "end": 544780 }, { "start": 549902, "end": 549998 }, { "start": 550072, "end": 550272 }, { "start": 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"biotype": "protein_coding", "start": 308408, "end": 315272, "strand": "+" }, { "symbol": "IFITM3", "ensemblId": "ENSG00000142089", "biotype": "protein_coding", "start": 309010, "end": 329475, "strand": "-", "slug": "ifitm3" }, { "symbol": "IFITM1", "ensemblId": "ENSG00000185885", "biotype": "protein_coding", "start": 309997, "end": 315275, "strand": "+", "slug": "ifitm1" }, { "symbol": "B4GALNT4", "ensemblId": "ENSG00000182272", "biotype": "protein_coding", "start": 369457, "end": 382117, "strand": "+", "slug": "b4galnt4" }, { "symbol": "PKP3", "ensemblId": "ENSG00000184363", "biotype": "protein_coding", "start": 392574, "end": 404908, "strand": "+", "slug": "pkp3" }, { "symbol": "SIGIRR", "ensemblId": "ENSG00000185187", "biotype": "protein_coding", "start": 405711, "end": 417473, "strand": "-", "slug": "sigirr" }, { "symbol": "ANO9", "ensemblId": "ENSG00000185101", "biotype": "protein_coding", "start": 417921, "end": 442072, "strand": "-", "slug": "ano9" }, { "symbol": "PTDSS2", "ensemblId": "ENSG00000174915", "biotype": "protein_coding", "start": 448268, "end": 501142, "strand": "+", "slug": "ptdss2" }, { "symbol": "RNH1", "ensemblId": "ENSG00000023191", "biotype": "protein_coding", "start": 494510, "end": 507395, "strand": "-", "slug": "rnh1" }, { "symbol": "HRAS", "ensemblId": "ENSG00000174775", "biotype": "protein_coding", "start": 532242, "end": 537343, "strand": "-", "slug": "hras" }, { "symbol": "LMNTD2", "ensemblId": "ENSG00000185522", "biotype": "protein_coding", "start": 554850, "end": 560743, "strand": "-", "slug": "lmntd2" }, { "symbol": "RASSF7", "ensemblId": "ENSG00000099849", "biotype": "protein_coding", "start": 560207, "end": 564067, "strand": "+", "slug": "rassf7" }, { "symbol": "PHRF1", "ensemblId": "ENSG00000070047", "biotype": "protein_coding", "start": 576170, "end": 612263, "strand": "+", "slug": "phrf1" }, { "symbol": "IRF7", "ensemblId": "ENSG00000185507", "biotype": "protein_coding", "start": 612551, "end": 615983, "strand": "-", "slug": "irf7" }, { "symbol": "CDHR5", "ensemblId": "ENSG00000099834", "biotype": "protein_coding", "start": 616405, "end": 626078, "strand": "-", "slug": "cdhr5" }, { "symbol": "SCT", "ensemblId": "ENSG00000070031", "biotype": "protein_coding", "start": 626309, "end": 627236, "strand": "-", "slug": "sct" }, { "symbol": "DRD4", "ensemblId": "ENSG00000069696", "biotype": "protein_coding", "start": 637269, "end": 640706, "strand": "+", "slug": "drd4" }, { "symbol": "DEAF1", "ensemblId": "ENSG00000177030", "biotype": "protein_coding", "start": 644220, "end": 707118, "strand": "-", "slug": "deaf1" }, { "symbol": "EPS8L2", "ensemblId": "ENSG00000177106", "biotype": "protein_coding", "start": 694438, "end": 727729, "strand": "+", "slug": "eps8l2" }, { "symbol": "TMEM80", "ensemblId": "ENSG00000177042", "biotype": "protein_coding", "start": 695011, "end": 705028, "strand": "+", "slug": "tmem80" }, { "symbol": "TALDO1", "ensemblId": "ENSG00000177156", "biotype": "protein_coding", "start": 747399, "end": 765035, "strand": "+", "slug": "taldo1" }, { "symbol": "GATD1", "ensemblId": "ENSG00000177225", "biotype": "protein_coding", "start": 767061, "end": 777507, "strand": "-", "slug": "gatd1" }, { "symbol": "CEND1", "ensemblId": "ENSG00000184524", "biotype": "protein_coding", "start": 785900, "end": 790113, "strand": "-", "slug": "cend1" }, { "symbol": "SLC25A22", "ensemblId": "ENSG00000177542", "biotype": "protein_coding", "start": 790474, "end": 798321, "strand": "-", "slug": "slc25a22" }, { "symbol": "PANO1", "ensemblId": "ENSG00000288675", "biotype": "protein_coding", "start": 797511, "end": 799190, "strand": "+", "slug": "pano1" }, { "symbol": "PIDD1", "ensemblId": "ENSG00000177595", "biotype": "protein_coding", "start": 798938, "end": 809753, "strand": "-", "slug": "pidd1" }, { "symbol": "RPLP2", "ensemblId": "ENSG00000177600", "biotype": "protein_coding", "start": 799414, "end": 812891, "strand": "+", "slug": "rplp2" }, { "symbol": "", "ensemblId": "ENSG00000293685", "biotype": "protein_coding", "start": 803398, "end": 804419, "strand": "-" }, { "symbol": "PNPLA2", "ensemblId": "ENSG00000177666", "biotype": "protein_coding", "start": 818907, "end": 825573, "strand": "+", "slug": "pnpla2" }, { "symbol": "CRACR2B", "ensemblId": "ENSG00000177685", "biotype": "protein_coding", "start": 826137, "end": 831993, "strand": "+", "slug": "cracr2b" }, { "symbol": "CD151", "ensemblId": "ENSG00000177697", "biotype": "protein_coding", "start": 832702, "end": 839831, "strand": "+", "slug": "cd151" }, { "symbol": "POLR2L", "ensemblId": "ENSG00000177700", "biotype": "protein_coding", "start": 837356, "end": 842727, "strand": "-", "slug": "polr2l" }, { "symbol": "TSPAN4", "ensemblId": "ENSG00000214063", "biotype": "protein_coding", "start": 840686, "end": 867120, "strand": "+", "slug": "tspan4" }, { "symbol": "CHID1", "ensemblId": "ENSG00000177830", "biotype": "protein_coding", "start": 866873, "end": 915579, "strand": "-", "slug": "chid1" }, { "symbol": "AP2A2", "ensemblId": "ENSG00000183020", "biotype": "protein_coding", "start": 924881, "end": 1012245, "strand": "+", "slug": "ap2a2" }, { "symbol": "MUC6", "ensemblId": "ENSG00000184956", "biotype": "protein_coding", "start": 1012823, "end": 1036718, "strand": "-", "slug": "muc6" } ], "truncated": false }, "reports": [ { "slug": "primary-ciliary-dyskinesia", "name": "Dyskinezja rzęsek pierwotna", "diseases": [ { "mondoId": "MONDO:0016575", "name": "Dyskinezja rzęsek pierwotna", "genes": 50, "inheritance": "autosomal-recessive", "description": "Rzadka, genetycznie heterogenna choroba, przede wszystkim układu oddechowego, charakteryzująca się przewlekłymi chorobami górnych i dolnych dróg oddechowych. U około połowy pacjentów z dyskinezją rzęsek pierwotną występuje zaburzenie ułożenia narządów (sytus inwersyjny całkowity lub sytus niejednoznaczny/heterotaksja).", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/primary-ciliary-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-inferior-vena-cava-morphology", "name": "Abnormal inferior vena cava morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-inferior-vena-cava-morphology" }, { "slug": "abnormal-atrial-arrangement", "name": "Abnormal location of heart atrium", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-atrial-arrangement" }, { "slug": "abnormal-sperm-motility", "name": "Abnormal sperm motility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-sperm-motility" }, { "slug": "abnormal-sputum", "name": "Abnormal sputum", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-sputum" }, { "slug": "abnormality-of-the-genitourinary-system", "name": "Abnormality of the genitourinary system", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system" }, { "slug": "abnormal-heart-morphology", "name": "Abnormality of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-morphology" }, { "slug": "abnormality-of-the-skeletal-system", "name": "Abnormality of the skeletal system", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system" }, { "slug": "asplenia", "name": "Absent spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/asplenia" }, { "slug": "situs-inversus-totalis", "name": "All organs on wrong side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/situs-inversus-totalis" }, { "slug": "anomalous-pulmonary-venous-return", "name": "Anomalous pulmonary venous return", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/anomalous-pulmonary-venous-return" }, { "slug": "atrial-situs-ambiguous", "name": "Atrial situs ambiguous", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/atrial-situs-ambiguous" }, { "slug": "nasal-congestion", "name": "Blockage of nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nasal-congestion" }, { "slug": "chronic-otitis-media", "name": "Chronic infections of the middle ear", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-otitis-media" }, { "slug": "chronic-lung-disease", "name": "Chronic lung disease", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-lung-disease" }, { "slug": "chronic-rhinitis", "name": "Chronic rhinitis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-rhinitis" }, { "slug": "chronic-sinusitis", "name": "Chronic sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-sinusitis" }, { "slug": "clubbing", "name": "Clubbing of fingers and toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clubbing" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cough" }, { "slug": "decreased-nasal-nitric-oxide", "name": "Decreased nasal nitric oxide", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-nasal-nitric-oxide" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "double-outlet-right-ventricle", "name": "Double outlet right ventricle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/double-outlet-right-ventricle" }, { "slug": "female-infertility", "name": "Female infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/female-infertility" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "dextrocardia", "name": "Heart tip and four chambers point towards right side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dextrocardia" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "lithoptysis", "name": "Lithoptysis", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lithoptysis" }, { "slug": "male-infertility", "name": "Male infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/male-infertility" }, { "slug": "morphological-central-nervous-system-abnormality", "name": "Morphological central nervous system abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/morphological-central-nervous-system-abnormality" }, { "slug": "polysplenia", "name": "Multiple small spleens", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/polysplenia" }, { "slug": "nasal-polyposis", "name": "Nasal polyposis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nasal-polyposis" }, { "slug": "neonatal-respiratory-distress", "name": "Neonatal respiratory distress", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neonatal-respiratory-distress" }, { "slug": "airway-obstruction", "name": "Obstructive lung disease", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/airway-obstruction" }, { "slug": "atelectasis", "name": "Partial or complete collapse of part or entire lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atelectasis" }, { "slug": "peribronchovascular-interstitial-thickening", "name": "Peribronchovascular interstitial thickening", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peribronchovascular-interstitial-thickening" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "persistent-left-superior-vena-cava", "name": "Persistent left superior vena cava", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/persistent-left-superior-vena-cava" }, { "slug": "pulmonary-situs-ambiguus", "name": "Pulmonary situs ambiguus", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-situs-ambiguus" }, { "slug": "recurrent-lower-respiratory-tract-infections", "name": "Recurrent chest infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-mycobacterial-infections", "name": "Recurrent mycobacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections" }, { "slug": "recurrent-sinopulmonary-infections", "name": "Recurrent sinus and lung infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-sinopulmonary-infections" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "rhinorrhea", "name": "Runny Nose", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rhinorrhea" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "transposition-of-the-great-arteries", "name": "Transposition of the great arteries", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/transposition-of-the-great-arteries" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "productive-cough", "name": "Wet cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/productive-cough" }, { "slug": "wheezing", "name": "Wheezing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wheezing" } ], "related": [ { "slug": "ccdc39", "symbol": "CCDC39", "name": "coiled-coil domain 39 molecular ruler complex subunit", "shared": 1, "url": "https://dantelabs.com/pl/genes/ccdc39" }, { "slug": "ccdc40", "symbol": "CCDC40", "name": "coiled-coil domain 40 molecular ruler complex subunit", "shared": 1, "url": "https://dantelabs.com/pl/genes/ccdc40" }, { "slug": "ccno", "symbol": "CCNO", "name": "cyclin O", "shared": 1, "url": "https://dantelabs.com/pl/genes/ccno" }, { "slug": "cenpf", "symbol": "CENPF", "name": "centromere protein F", "shared": 1, "url": "https://dantelabs.com/pl/genes/cenpf" }, { "slug": "cfap20dc", "symbol": "CFAP20DC", "name": "CFAP20 domain containing", "shared": 1, "url": "https://dantelabs.com/pl/genes/cfap20dc" }, { "slug": "cfap221", "symbol": "CFAP221", "name": "cilia and flagella associated protein 221", "shared": 1, "url": "https://dantelabs.com/pl/genes/cfap221" }, { "slug": "cfap298", "symbol": "CFAP298", "name": "cilia and flagella associated protein 298", "shared": 1, "url": "https://dantelabs.com/pl/genes/cfap298" }, { "slug": "cfap300", "symbol": "CFAP300", "name": "cilia and flagella associated protein 300", "shared": 1, "url": "https://dantelabs.com/pl/genes/cfap300" }, { "slug": "cfap54", "symbol": "CFAP54", "name": "cilia and flagella associated protein 54", "shared": 1, "url": "https://dantelabs.com/pl/genes/cfap54" }, { "slug": "clxn", "symbol": "CLXN", "name": "calaxin", "shared": 1, "url": "https://dantelabs.com/pl/genes/clxn" }, { "slug": "daw1", "symbol": "DAW1", "name": "dynein assembly factor with WD repeats 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/daw1" }, { "slug": "dnaaf1", "symbol": "DNAAF1", "name": "dynein axonemal assembly factor 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/dnaaf1" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }