Table 1

 Conditions with an increased risk of Wilms tumour

*Individuals with hemihypertrophy caused by 11p15 uniparental disomy or isolated H19 hypermethylation are at moderate risk of Wilms tumour.
WAGR, Wilms-aniridia-genitourinary-mental.
High risk (>20%)
WT1 deletions (including WAGR syndrome)
• Truncating and pathogenic missense WT1 mutations (including Denys-Drash syndrome)
• Familial Wilms tumour
• Perlman syndrome
• Mosaic variegated aneuploidy
• Fanconi anaemia D1/Biallelic BRCA2 mutations
Moderate risk (5–20%)
WT1 intron 9 splice mutations (Frasier syndrome)
• Beckwith-Wiedemann syndrome caused by 11p15 uniparental disomy, isolated H19 hypermethylation, or of unknown cause
• Simpson-Golabi-Behmel syndrome caused by GPC3 mutations/deletions
Low risk (<5%)
• Isolated hemihypertrophy*
• Bloom syndrome
• Li-Fraumeni syndrome/Li-Fraumeni-like syndrome
• Hereditary hyperparathyroidism-jaw tumour syndrome
• Mulibrey nanism
• Trisomy 18
• Trisomy 13
• 2q37 deletions