Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37401-Loss

11p13 (WAGR syndrome) region Loss
PanelMode of inheritanceDetails
5 panels
Green
in Aniridia
R-numbers: R38
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Green
in Disorders of sex development
R-numbers: R146
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Green
in Tumour predisposition - childhood onset
R-numbers: R359
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Green
in Unexplained paediatric onset end-stage renal disease
R-numbers: R257
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
194072, Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome