Genomics England

ISCA-37401-Loss

11p13 (WAGR syndrome) region Loss

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood solid tumours Signed-off version 5.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Green in Differences in sex development R-numbers: R146 Signed-off version 4.22	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Green in Embryonal tumour of possible germline origin R-numbers: R456 Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072, WAGR syndrome, MONDO:0008681
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Green in Sporadic aniridia R-numbers: R38 Signed-off version 3.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Green in Unexplained young onset end-stage renal disease - additional genes Component of the following Super Panels: - Unexplained young onset end-stage renal disease Signed-off version 2.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072