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Nephroblastoma

Disease Export to PDF
Name:
Nephroblastoma
Description:
A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
ORPHAcode:
654
Synonyms:
Renal embryonic tumor
Wilms tumor
XREF(s):
Orphanet
MeSH
MedDRA
ICD-10
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
Analyte(s):
BRCA2
GPC3
TRIM28
TRIM28
REST
TRIP13
POU6F2
WT1
WT1
H19
DIS3L2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hereditary predisposition to cancer (47 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 NM_000038.6
    ATM 100.00 1 NM_000051.3
    BAP1 100.00 1 NM_004656.4
    BARD1 100.00 1 NM_000465.4
    BMPR1A 100.00 1 NM_004329.3
    BRCA1 100.00 1 NM_007294.4
    BRCA2 100.00 1 NM_000059.3
    BRIP1 100.00 1 NM_032043.3
    CDH1 100.00 1 NM_004360.5
    CDKN1B 100.00 1 NM_004064.4
    CDKN2A 100.00 1 NM_001195132.1
    CHEK2 100.00 1 NM_007194.4
    EPCAM 100.00 1 NM_002354.3
    GATA2 100.00 1 NM_032638.5
    GREM1 100.00 1 NM_013372.7
    MEN1 100.00 1 NM_001370259.2
    MLH1 100.00 1 NM_000249.4
    MSH2 100.00 1 NM_000251.3
    MSH3 100.00 1 NM_002439.5
    MSH6 100.00 1 NM_000179.3
    MUTYH 100.00 1 NM_001128425.2
    NBN 100.00 1 NM_002485.5
    NTHL1 100.00 1 NM_002528.7
    PALB2 100.00 1 NM_024675.4
    PIK3CA 100.00 1 NM_006218.4
    PMS2 100.00 1 NM_000535.7
    POLD1 100.00 1 NM_002691.4
    POLE 100.00 1 NM_006231.4
    PTEN 100.00 1 NM_000314.8
    RAD50 100.00 1 NM_005732.4
    RAD51C 100.00 1 NM_058216.3
    RAD51D 100.00 1 NM_002878.3
    RPS20 100.00 1 NM_001146227.2
    SCG5 100.00 1 NM_001144757.2
    SMAD4 100.00 1 NM_005359.6
    STK11 100.00 1 NM_000455.5
    TP53 100.00 1 NM_000546.5
    WWP1 100.00 1 NM_007013.4
    AXIN2 100.00 1 NM_004655.4
    CDK4 100.00 1 NM_000075.4
    DICER1 100.00 1 NM_030621.4
    HOXB13 100.00 1 NM_006361.6
    NF1 100.00 1 NM_001042492.3
    POT1 100.00 1 NM_015450.3
    PTCH1 100.00 1 NM_000264.5
    RB1 100.00 1 NM_000321.2
    RET 100.00 1 NM_020975.6
  • Wilms' tumor (2 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    DICER1 100.00 1
    WT1 100.00 1