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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 16/05/2006
Symbol WT2
Location 11p15.5
HGNC id 12797
Name non-syndromic Wilms tumor
Corresponding gene H19
Main clinical features sporadic WT without features of growth disorders
Genetic determination epigenetic
Prevalence in 3p100 of sporadic WT
Function/system disorder kidney and urinary tract
Type malignancy
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
imprinting defect     constitutional 11p15 defects including H19 DMR epimutations, uniparental disomy 11p15 and H19 DMR imprinting center mutations (one microinsertion and one microdeletion),
Remark(s) imprinted domain 1 anomalies
Genotype/Phenotype correlations individuals with imprinted domain 2 anomalies do not have an increase of WT