Klinische FragestellungWT1-Erkrankung; DD Wilms-Tumor-Prädisposition + Steroid-resistentes nephrotisches Syndrom

NGS +

• Wilms tumor, type 1 (WT1)
• Denys-Drash syndrome (WT1)
• Frasier syndrome (WT1)
• Meacham syndrome (WT1)
• Mesothelioma, somatic (WT1)
• Nephrotic syndrome, type 4 (WT1)
• Allelic: Alport syndrome 1, XL (COL4A5)
• Allelic: Alport syndrome 2, AR (COL4A3, COL4A4)
• Allelic: Alport syndrome 3, AD (COL4A3)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Breast cancer, somatic (PIK3CA)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Breast cancer, susceptibility to (PALB2)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: CLAPO syndrome, somatic (PIK3CA)
• Allelic: CLOVE syndrome, somatic (PIL3CA)
• Allelic: Deafness, AD 27 (REST)
• Allelic: Fanconi anemia, complementation group D1 (BRCA2)
• Allelic: Fanconi anemia, complementation group N (PALB2)
• Allelic: Fibromatosis, gingival, 5 (REST)
• Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Allelic: Hyperparathyroidism, familial primary (CDC73)
• Allelic: Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Allelic: Nasopharyngeal carcinoma, somatic (TP53)
• Allelic: Parathyroid adenoma with cystic changes (CDC73)
• Allelic: Parathyroid carcinoma (CDC73)
• Allelic: Pleuropulmonary blastoma (DICER1)
• Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
• Bloom syndrome (BLM)
• Colorectal cancer, somatic (BUB1B)
• Colorectal cancer, somatic (PIK3CA)
• Cowden syndrome 5 (PIK3CA)
• Familial Wilms tumor [panelapp] (CTR9)
• Focal segmental glomerulosclerosis 10 (LMX1B)
• GLOW syndrome, somatic mosaic [Global devel. delay, Lung cysts, Overgrowth, WT] (DICER1)
• Hematuria, benign familial (COL4A3, COL4A4)
• Hepatocellular carcinoma, somatic (TP53)
• Keipert syndrome [craniofacial + digital abnormalities, learning difficulties] (GPC4)
• Li-Fraumeni syndrome (TP53)
• Mosaic variegated aneuploidy syndrome 1 (BUB1B)
• Mulibrey nanism (TRIM37)
• Nail-patella syndrome (LMX1B)
• Nephrotic syndrome, type 1 (NPHS1)
• Nephrotic syndrome, type 2 (NPHS2)
• Ovarian cancer, somatic (PIK3CA)
• Pancreatic cancer, somatic (TP53)
• Pancreatic cancer, susceptibility to, 3 (PALB2)
• Perlman syndrome [similar to Beckwith-Wiedemann syndrome] (DIS3L2)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Simpson-Golabi-Behmel syndrome, type 1 [overgrowth, face, cong. heart defects + add.] (GPC3)
• Wilms tumor (BRCA2)
• Wilms tumor 6, susceptibility to (REST)
• Wilms tumor susceptibility-5 (POU6F2)
• Wilms tumor, somatic (GPC3)