IllnessWT1 disorder, DD Wilms tumor predisposition + Steroid-resistant nephrotic syndrome
Summary
Short information
Comprehensive differential diagnostic panel for WT1 disorder [DD Wilms tumor predisposition + Steroid-resistant nephrotic syndrome] comprising 1 guideline-curated gene and altogether 23 curated genes according to the clinical signs
ID
WP0040
Number of genes
23
Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
76,4 kb (Extended panel: incl. additional genes)
76,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
WT1 | 1569 | AD | |
BLM | 4254 | AR | |
BRCA2 | 10257 | AD, SMu | |
BUB1B | 3153 | AR | |
CDC73 | 1596 | AD | |
COL4A3 | 5013 | AD, AR | |
COL4A4 | 5073 | AD, AR | |
COL4A5 | 5058 | XLD | |
CTR9 | 3547 | AD | |
DICER1 | 5769 | AD, Sus | |
DIS3L2 | 2658 | AD | |
GPC3 | 1743 | XLR, Sus | |
GPC4 | 1671 | XLR, Sus | |
LMX1B | 1188 | AD | |
NPHS1 | 3726 | AR | |
NPHS2 | 1152 | AR | |
PALB2 | 3561 | AD, AR | |
PIK3CA | 3207 | SMu | |
POU6F2 | 1968 | AD | |
REST | 3294 | AD, Sus | |
SMARCAL1 | 2865 | AR | |
TP53 | 1182 | AD | |
TRIM37 | 2895 | AR |
Informations about the disease
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- SMu
- Sus
- XLD
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.8
Bioinformatics and clinical interpretation
No text defined