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] containing 1 guideline-curated gene, furthermore 3 core candidate genes and altogether 17 curated genes according to the clinical signs

WP0040

Number of loci

Locus type	Count
Gen	16

Accredited laboratory test

Examined sequence length

9,4 kb (Core-/Core-canditate-Genes)
61,1 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
NPHS1	3726	602716	NM_004646.4	AR
NPHS2	1152	604766	NM_014625.4	AR
SMARCAL1	2865	606622	NM_001127207.2	AR
WT1	1569	607102	NM_024426.6	AD, SMu
BLM	4254	604610	NM_000057.4	AR
BRCA2	10257	600185	NM_000059.4	AD, SMu
BUB1B	3153	602860	NM_001211.6	AR
COL4A3	5013	120070	NM_000091.5	AD, AR
COL4A4	5073	120131	NM_000092.5	AD, AR
COL4A5	5058	303630	NM_000495.5	XL
CTR9	3547	609366	NM_014633.5	AD
DICER1	5769	606241	NM_177438.3	AD, Sus
DIS3L2	2658	614184	NM_152383.5	AD
GPC3	1743	300037	NM_004484.4	XLR, Sus, SMu
POU6F2	1968	609062	NM_001166018.2	AD, Sus
REST	3294	600571	NM_005612.5	AD, Sus

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined