{ "url": "https://dantelabs.com/sv/genes/dnaaf3", "gene": { "slug": "dnaaf3", "symbol": "DNAAF3", "name": "dynein axonemal assembly factor 3", "hgnc": "HGNC:30492", "summary": null, "location": "19q13.42", "locusType": "gene with protein product", "aliases": [ "FLJ40069", "FLJ36139", "pf22", "PCD" ], "previousSymbols": [ "C19orf51", "CILD2" ], "ensemblId": "ENSG00000167646", "entrezId": 352909, "omim": [ "614566" ], "uniprot": [ "Q8N9W5" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 55158665, "end": 55166613, "strand": "-", "ensemblTranscript": "ENST00000524407.7", "refseqTranscript": "NM_001256715.2", "ensemblProtein": "ENSP00000432046.3", "refseqProtein": "NP_001243644.1", "exons": [ { "start": 55158665, "end": 55159449 }, { "start": 55159533, "end": 55159607 }, { "start": 55159899, "end": 55160013 }, { "start": 55160640, "end": 55160775 }, { "start": 55161065, "end": 55161187 }, { "start": 55161293, "end": 55161418 }, { "start": 55161643, "end": 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"strand": "-", "slug": "sbk3" }, { "symbol": "ZNF579", "ensemblId": "ENSG00000218891", "biotype": "protein_coding", "start": 55576774, "end": 55580921, "strand": "-", "slug": "znf579" }, { "symbol": "FIZ1", "ensemblId": "ENSG00000179943", "biotype": "protein_coding", "start": 55591371, "end": 55606194, "strand": "-", "slug": "fiz1" }, { "symbol": "ZNF524", "ensemblId": "ENSG00000171443", "biotype": "protein_coding", "start": 55599714, "end": 55603592, "strand": "+", "slug": "znf524" }, { "symbol": "ZNF865", "ensemblId": "ENSG00000261221", "biotype": "protein_coding", "start": 55605502, "end": 55617269, "strand": "+", "slug": "znf865" }, { "symbol": "ZNF784", "ensemblId": "ENSG00000179922", "biotype": "protein_coding", "start": 55620741, "end": 55624570, "strand": "-", "slug": "znf784" }, { "symbol": "ZNF581", "ensemblId": "ENSG00000171425", "biotype": "protein_coding", "start": 55624664, "end": 55647294, "strand": "+", "slug": "znf581" }, { "symbol": "ZNF580", "ensemblId": "ENSG00000213015", "biotype": "protein_coding", "start": 55635003, "end": 55643470, "strand": "+", "slug": "znf580" }, { "symbol": "CCDC106", "ensemblId": "ENSG00000173581", "biotype": "protein_coding", "start": 55640967, "end": 55653161, "strand": "+", "slug": "ccdc106" }, { "symbol": "U2AF2", "ensemblId": "ENSG00000063244", "biotype": "protein_coding", "start": 55654115, "end": 55674717, "strand": "+", "slug": "u2af2" } ], "truncated": false }, "reports": [ { "slug": "primary-ciliary-dyskinesia", "name": "Primär ciliär dyskinesi", "diseases": [ { "mondoId": "MONDO:0016575", "name": "Primär ciliär dyskinesi", "genes": 50, "inheritance": "autosomal-recessive", "description": "En sällsynt, genetiskt heterogen sjukdom som främst påverkar luftvägarna och kännetecknas av kronisk sjukdom i de övre och nedre luftvägarna. Ungefär hälften av PCD-patienterna har en lateralitetsdefekt i organen (situs inversus totalis eller situs ambiguus/heterotaxi).", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/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": "absent-inner-and-outer-dynein-arms", "name": "Absent inner and outer dynein arms", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/absent-inner-and-outer-dynein-arms" }, { "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": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-distress" }, { "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-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": "ciliary-dyskinesia", "name": "Ciliary dyskinesia", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/ciliary-dyskinesia" }, { "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": "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": "very-rare", "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" ], "url": "https://dantelabs.com/traits/dextrocardia" }, { "slug": "immotile-cilia", "name": "Immotile cilia", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/immotile-cilia" }, { "slug": "infertility", "name": "Infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/infertility" }, { "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": "otitis-media", "name": "Middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/otitis-media" }, { "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": "occasional", "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-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "frequent", "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-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-respiratory-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": "sinusitis", "name": "Sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/sinusitis" }, { "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/sv/genes/ccdc39" }, { "slug": "ccdc40", "symbol": "CCDC40", "name": "coiled-coil domain 40 molecular ruler complex subunit", "shared": 1, "url": "https://dantelabs.com/sv/genes/ccdc40" }, { "slug": "ccno", "symbol": "CCNO", "name": "cyclin O", "shared": 1, "url": "https://dantelabs.com/sv/genes/ccno" }, { "slug": "cenpf", "symbol": "CENPF", "name": "centromere protein F", "shared": 1, "url": "https://dantelabs.com/sv/genes/cenpf" }, { "slug": "cfap20dc", "symbol": "CFAP20DC", "name": "CFAP20 domain containing", "shared": 1, "url": "https://dantelabs.com/sv/genes/cfap20dc" }, { "slug": "cfap221", "symbol": "CFAP221", "name": "cilia and flagella associated protein 221", "shared": 1, "url": "https://dantelabs.com/sv/genes/cfap221" }, { "slug": "cfap298", "symbol": "CFAP298", "name": "cilia and flagella associated protein 298", "shared": 1, "url": "https://dantelabs.com/sv/genes/cfap298" }, { "slug": "cfap300", "symbol": "CFAP300", "name": "cilia and flagella associated protein 300", "shared": 1, "url": "https://dantelabs.com/sv/genes/cfap300" }, { "slug": "cfap54", "symbol": "CFAP54", "name": "cilia and flagella associated protein 54", "shared": 1, "url": "https://dantelabs.com/sv/genes/cfap54" }, { "slug": "clxn", "symbol": "CLXN", "name": "calaxin", "shared": 1, "url": "https://dantelabs.com/sv/genes/clxn" }, { "slug": "daw1", "symbol": "DAW1", "name": "dynein assembly factor with WD repeats 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/daw1" }, { "slug": "dnaaf1", "symbol": "DNAAF1", "name": "dynein axonemal assembly factor 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/dnaaf1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }