1.1 Name of the disease (synonyms)
WAGR syndrome; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; chromosome 11p13 deletion syndrome.
1.2 OMIM# of the disease
1.3 Name of the analyzed genes or DNA/chromosome segments
1.4 OMIM# of the gene(s)
607102 (WT1), 607108 (PAX6).
1.5 Mutational spectrum
Breakpoints differ in individual cases, but the minimum deletion involves both PAX6 and WT1, which are ~700kb apart in the distal half of band 11p13.
1.6 Analytical methods
1.7 Analytical validation
Analyze known non-deleted and deleted cases in parallel as controls to show that reagents used for FISH, array CGH and MLPA are working well.
1.8 Estimated frequency of the disease
(Incidence at birth (‘birth prevalence') or population prevalence):
Rare, with only a few hundred cases reported.
1.9 If applicable, prevalence in the ethnic group of the investigated person
1.10 Diagnostic setting