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"ensemblId": "ENSG00000261884", "biotype": "protein_coding", "start": 67929614, "end": 67936017, "strand": "-" }, { "symbol": "PSMB10", "ensemblId": "ENSG00000205220", "biotype": "protein_coding", "start": 67934504, "end": 67936865, "strand": "-", "slug": "psmb10" }, { "symbol": "LCAT", "ensemblId": "ENSG00000213398", "biotype": "protein_coding", "start": 67939150, "end": 67944681, "strand": "-", "slug": "lcat" }, { "symbol": "SLC12A4", "ensemblId": "ENSG00000124067", "biotype": "protein_coding", "start": 67943474, "end": 67969601, "strand": "-", "slug": "slc12a4" }, { "symbol": "DPEP3", "ensemblId": "ENSG00000141096", "biotype": "protein_coding", "start": 67975661, "end": 67980554, "strand": "-", "slug": "dpep3" }, { "symbol": "DPEP2", "ensemblId": "ENSG00000167261", "biotype": "protein_coding", "start": 67987392, "end": 68000624, "strand": "-", "slug": "dpep2" }, { "symbol": "DUS2", "ensemblId": "ENSG00000167264", "biotype": "protein_coding", "start": 67987746, "end": 68079344, "strand": "+", "slug": "dus2" }, { "symbol": "DPEP2NB", "ensemblId": "ENSG00000263201", "biotype": "protein_coding", "start": 68013436, "end": 68015911, "strand": "-", "slug": "dpep2nb" }, { "symbol": "DDX28", "ensemblId": "ENSG00000182810", "biotype": "protein_coding", "start": 68020916, "end": 68023232, "strand": "-", "slug": "ddx28" }, { "symbol": "NFATC3", "ensemblId": "ENSG00000072736", "biotype": "protein_coding", "start": 68084751, "end": 68229259, "strand": "+", "slug": "nfatc3" } ], "truncated": false }, "reports": [ { "slug": "severe-combined-immunodeficiency", "name": "Σοβαρή συνδυασμένη ανοσοανεπάρκεια", "diseases": [ { "mondoId": "MONDO:0015974", "name": "Σοβαρή συνδυασμένη ανοσοανεπάρκεια", "genes": 31, "inheritance": "autosomal-recessive", "description": "Η σοβαρή συνδυασμένη ανοσοανεπάρκεια (SCID) αποτελεί ομάδα σπάνιων μονογονιδιακών πρωτοπαθών ανοσοανεπαρκειών, που χαρακτηρίζονται από έλλειψη λειτουργικών περιφερικών Τ-λεμφοκυττάρων, με αποτέλεσμα σοβαρές αναπνευστικές λοιμώξεις με πρώιμη εμφάνιση και καθυστέρηση της σωματικής ανάπτυξης. Ταξινομούνται ανάλογα με το ανοσολογικό φαινότυπο σε SCID με απουσία Τ-κυττάρων αλλά παρουσία Β-κυττάρων (T-B+ SCID) ή SCID με απουσία και των δύο (T-B- SCID). Και οι δύο αυτές ομάδες περιλαμβάνουν διάφορες μορφές, με ή χωρίς φυσικά κύτταρα δολοφόνοι (NK).", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/el/conditions/severe-combined-immunodeficiency" }, { "slug": "immunodeficiency-disease", "name": "Άλλα έμφυτα σφάλματα της ανοσίας", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Ανοσοανεπάρκεια", "genes": 170, "inheritance": null, "description": "Νόσος κατά την οποία υπάρχει ανεπάρκεια ή ελάττωμα στους μηχανισμούς ανοσίας, είτε κυτταρικής είτε χυμικής φύσης.", "management": "Μεταμόσχευση αιμοποιητικών βλαστικών κυττάρων (HSCT) για SCID και σοβαρές PID· υποκατάσταση ανοσοσφαιρινών (IVIG/SCIG) για ανεπάρκειες αντισωμάτων· λενιολισίμπη (Joenja, FDA 2023) για APDS· γονιδιακή θεραπεία για ADA-SCID· αμπατασέπτη για ανεπάρκεια CTLA4/LRBA· προφυλακτικά αντιβιοτικά· G-CSF για CGD", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/el/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/asthma" }, { "slug": "nasal-congestion", "name": "Blockage of nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nasal-congestion" }, { "slug": "chronic-bronchitis", "name": "Chronic bronchitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chronic-bronchitis" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "chronic-otitis-media", "name": "Chronic infections of the middle ear", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chronic-otitis-media" }, { "slug": "chronic-pulmonary-obstruction", "name": "Chronic pulmonary obstruction", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-pulmonary-obstruction" }, { "slug": "cold-urticaria", "name": "Cold urticaria", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cold-urticaria" }, { "slug": "colitis", "name": "Colitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/colitis" }, { "slug": "decreased-circulating-immunoglobulin-concentration", "name": "Decreased circulating antibody level", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration" }, { "slug": "decreased-specific-antibody-response-to-vaccination", "name": "Decreased specific antibody response to vaccination", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-specific-antibody-response-to-vaccination" }, { "slug": "decreased-t-cell-activation", "name": "Decreased T cell activation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-t-cell-activation" }, { "slug": "dysuria", "name": "Dull burning sensation with urination", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysuria" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "allergic-rhinitis", "name": "Hay fever", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/allergic-rhinitis" }, { "slug": "helicobacter-pylori-infection", "name": "Helicobacter pylori infection", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/helicobacter-pylori-infection" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "esophagitis", "name": "Inflammation of the esophagus", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/esophagitis" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "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": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "psoriasiform-lesion", "name": "Psoriasiform lesion", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/psoriasiform-lesion" }, { "slug": "recurrent-aphthous-stomatitis", "name": "Recurrent canker sores", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis" }, { "slug": "recurrent-upper-respiratory-tract-infections", "name": "Recurrent colds", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections" }, { "slug": "recurrent-cutaneous-abscess-formation", "name": "Recurrent cutaneous abscess formation", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-cutaneous-abscess-formation" }, { "slug": "recurrent-mucocutaneous-candidiasis", "name": "Recurrent mucocutaneous candidiasis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "scaling-skin", "name": "Scaling skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scaling-skin" }, { "slug": "seborrheic-dermatitis", "name": "Seborrheic dermatitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seborrheic-dermatitis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "cutaneous-abscess", "name": "Skin abscess", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutaneous-abscess" }, { "slug": "atrophic-scars", "name": "Sunken or indented skin due to damage", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/atrophic-scars" }, { "slug": "unusual-fungal-nail-infection", "name": "Unusual fungal nail infection", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unusual-fungal-nail-infection" }, { "slug": "unusual-molluscum-contagiosum", "name": "Unusual molluscum contagiosum", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unusual-molluscum-contagiosum" }, { "slug": "verrucae", "name": "Warts", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/verrucae" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 2, "url": "https://dantelabs.com/el/genes/ada" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 2, "url": "https://dantelabs.com/el/genes/ak2" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/el/genes/bcl11b" }, { "slug": "card11", "symbol": "CARD11", "name": "caspase recruitment domain family member 11", "shared": 2, "url": "https://dantelabs.com/el/genes/card11" }, { "slug": "cd247", "symbol": "CD247", "name": "CD247 molecule", "shared": 2, "url": "https://dantelabs.com/el/genes/cd247" }, { "slug": "cd3d", "symbol": "CD3D", "name": "CD3 delta subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/el/genes/cd3d" }, { "slug": "cd3e", "symbol": "CD3E", "name": "CD3 epsilon subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/el/genes/cd3e" }, { "slug": "cd70", "symbol": "CD70", "name": "CD70 molecule", "shared": 2, "url": "https://dantelabs.com/el/genes/cd70" }, { "slug": "ciita", "symbol": "CIITA", "name": "class II major histocompatibility complex transactivator", "shared": 2, "url": "https://dantelabs.com/el/genes/ciita" }, { "slug": "coro1a", "symbol": "CORO1A", "name": "coronin 1A", "shared": 2, "url": "https://dantelabs.com/el/genes/coro1a" }, { "slug": "dclre1c", "symbol": "DCLRE1C", "name": "DNA cross-link repair 1C", "shared": 2, "url": "https://dantelabs.com/el/genes/dclre1c" }, { "slug": "foxn1", "symbol": "FOXN1", "name": "forkhead box N1", "shared": 2, "url": "https://dantelabs.com/el/genes/foxn1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }