ErkrankungWT1-Erkrankung; DD Wilms-Tumor-Prädisposition + Steroid-resistentes nephrotisches Syndrom
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für WT1-Erkrankung [DD Wilms-Tumor-Prädisposition + Steroid-resistentes nephrotisches Syndrom] mit 1 Leitlinien-kuratierten und zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
WP0040
Anzahl Gene
23
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,6 kb (Core-/Basis-Gene)
76,4 kb (Erweitertes Panel)
76,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
WT1 | 1569 | AD und/oder Dig und/oder SMu und/oder Sus | |
BLM | 4254 | AR und/oder Sus | |
BRCA2 | 10257 | AD und/oder AR und/oder SMu und/oder Sus | |
BUB1B | 3153 | AD und/oder AR und/oder Sus | |
CDC73 | 1596 | AD und/oder Sus | |
COL4A3 | 5013 | AD und/oder AR und/oder Dig | |
COL4A4 | 5073 | AD und/oder AR und/oder Dig | |
COL4A5 | 5058 | XLD | |
CTR9 | 3547 | AD | |
DICER1 | 5769 | AD und/oder Sus | |
DIS3L2 | 2658 | AR und/oder Sus | |
GPC3 | 1743 | XLR und/oder SMu und/oder Sus | |
GPC4 | 1671 | XLR und/oder Sus | |
LMX1B | 1188 | AD | |
NPHS1 | 3726 | AR und/oder Dig | |
NPHS2 | 1152 | AR und/oder Dig | |
PALB2 | 3561 | AD und/oder Sus | |
PIK3CA | 3207 | AD und/oder SMu und/oder Sus | |
POU6F2 | 1968 | AD und/oder SMu und/oder Sus | |
REST | 3294 | AD und/oder Sus | |
SMARCAL1 | 2865 | AR | |
TP53 | 1182 | AD und/oder SMu und/oder Sus | |
TRIM37 | 2895 | AR und/oder Sus |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR und/oder Dig
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AD und/oder Dig und/oder SMu und/oder Sus
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR
- AR und/oder Dig
- AR und/oder Sus
- XLD
- XLR und/oder SMu und/oder Sus
- XLR und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.8
Bioinformatik und klinische Interpretation
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