Klinische FragestellungWT1-Erkrankung; DD kongenitale Zwerchfell-Hernien

NGS +

• Wilms tumor, type 1 (WT1)
• Denys-Drash syndrome (WT1)
• Frasier syndrome (WT1)
• Meacham syndrome (WT1)
• Mesothelioma, somatic (WT1)
• Nephrotic syndrome, type 4 (WT1)
• 46XX sex reversal 5 (NR2F2)
• 46XY sex reversal 9 (ZFPM2)
• Allelic: Atrial septal defect 2 (GATA4)
• Allelic: Atrioventricular septal defect 4 (GATA4)
• Allelic: Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
• Allelic: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MYRF)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Meningioma, familial, susceptibility to (SMARCE1)
• Allelic: Mitochondrial complex I deficiency, nuclear type 30 (NDUFB11)
• Allelic: Pancreatic agenesis + congenital heart defects (GATA6)
• Allelic: Persistent truncus arteriosus (GATA6)
• Allelic: Polymicrogyria with/-out vascular-type EDS (COL3A1)
• Allelic: Testicular anomalies with/-out congenital heart disease (GATA4)
• Allelic: Ventricular septal defect 1 (GATA4)
• Apert syndrome (FGFR2)
• Arterial tortuosity syndrome (SLC2A10)
• Beckwith-Wiedemann syndrome (CDKN1C)
• CHARGE syndrome [Coloboma, Heart anomaly, choanal Atresia, Retardation, Genital + Ear anmal.] (CHD7)
• Cardiac-urogenital syndrome (MYRF)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 2 (ARID1A)
• Coffin-Siris syndrome 3 (SMARCB1)
• Coffin-Siris syndrome 4 (SMARCA4)
• Coffin-Siris syndrome 5 (SMARCE1)
• Coffin-Siris syndrome 9 (SOX11)
• Congenital heart defects, multiple types, 4 (NR2F2)
• Cornelia de Lange syndrome 1 (NIPBL)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cornelia de Lange syndrome 3 (SMC3)
• Cornelia de Lange syndrome 4 (RAD21)
• Cornelia de Lange syndrome 5 (HDAC8)
• Craniofrontonasal dysplasia (EFNB1)
• Cutis laxa, AR, type IC (LTBP4)
• Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Diaphragmatic hernia 3 (ZFPM2)
• Donnai-Barrow syndrome (LRP2)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Focal dermal hypoplasia (PORCN)
• Fraser syndrome 1 (FRAS1)
• Fraser syndrome 2 (FREM2)
• IMAGE syndrome (CDKN1C)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Linear skin defects with multiple congenital anomalies (HCCS)
• Linear skin defects with multiple congenital anomalies 2 (COX7B)
• Linear skin defects with multiple congenital anomalies 3 (NDUFB11)
• MASS syndrome (FBN1)
• Marfan syndrome (FBN1)
• Microphthalmia, syndromic 12 (RARB)
• Microphthalmia, syndromic 9 (STRA6)
• Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
• Mungan syndrome (RAD21)
• Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Rhabdoid tumors, somatic (SMARCB1)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Spondylocostal dysostosis 1, AR (DLL3)
• Spondylocostal dysostosis 2, AR (MESP2)
• Spondylocostal dysostosis 3, AR (LFNG)
• Spondylocostal dysostosis 4, AR (HES7)
• Spondylocostal dysostosis 5 (TBX6)
• Spondylocostal dysostosis 6 (RIPPLY2)
• Tetralogy of Fallot (GATA4)
• Tetralogy of Fallot (GATA6)
• Tetralogy of Fallot (ZFPM2)
• Tonne-Kalscheuer syndrome [multiple congenital anomalies + global developmental delay] (RLIM)
• White-Sutton syndrome [delayed psychomotor development + dysmorphic face] (POGZ)
• Wilms tumor, somatic (GPC3)