ISCA-37401-Loss

11p13 (WAGR syndrome) region Loss
PanelMode of inheritanceDetails
5 panels
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
R-numbers: R146
Signed-off version 4.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
R-numbers: R38
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, 194072
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072