Table 2 Molecular and phenotypic abnormalities with Wilms's tumour risks in excess of 5%.

Gene	Phenotypes	Tests available	Who should have WT surveillance	WT risk*
WT1	WAGR syndrome	Karyotype	All with WT1 deletion/pathogenic mutation	High
	Denys–Drash syndrome	11p13 FISH
	Frasier syndrome†	Mutation screen
	Familial WT
	Aniridia
	Isolated WT
FWT1/FWT2/ other genes	Familial WT	–	All potential carriers	High
BRCA2	Fanconi anaemia D1	Mutation screen	All with biallelic BRCA2 mutations	High
(biallelic)	Some childhood cancer clusters
BUB1B,	Mosaic variegated aneuploidy	Karyotype	All	High
other genes		Mutation screen (research)
Unknown	Perlman syndrome	—	All	High
11p15 defects	Beckwith–Wiedemann syndrome	Karyotype	All with paternal uniparental disomy 11p15	Moderate
	Some hemihypertrophy cases	11p15 uniparental disomy	All with isolated H19 hypermethylation
		H19 methylation (research)	All with Beckwith–Wiedemann of unknown cause
		KvDMR1 methylation	Not those with isolated loss of methylation of KvDMR1‡
		CDKN1C mutation screen (research)	Not those with CDKN1C mutations‡Not those with HH of unknown cause‡
GPC3	Simpson–Golabi–Behmel syndrome	Mutation screen	All males with GPC3 mutation/deletion	Moderate

FISH, fluorescence in situ hybridisation; WAGR, Wilms's tumour‐aniridia‐genitourinary‐mental retardation; WT, Wilms's tumour.

*Risk of developing WT: high>20%, moderate (5–20%).

†The risk of WT associated with WT1 intron 9 splice site mutations/Frasier syndrome is moderate.

‡These individuals are at low risk of WT (<5%).