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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
WT11569AD
BLM4254AR
BRCA210257AD, SMu
BUB1B3153AR
CDC731596AD
COL4A35013AD, AR
COL4A45073AD, AR
COL4A55058XLD
CTR93547AD
DICER15769AD, Sus
DIS3L22658AD
GPC31743XLR, Sus
GPC41671XLR, Sus
LMX1B1188AD
NPHS13726AR
NPHS21152AR
PALB23561AD, AR
PIK3CA3207SMu
POU6F21968AD
REST3294AD, Sus
SMARCAL12865AR
TP531182AD
TRIM372895AR

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