Structural eye disease
Gene: WT1
WT1 is often concurrently deleted with PAX6 in aniridia cases but I cannot find evidence that variants in WT1 without PAX6 involvement cause aniridiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; 194072
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). WT1 is often concurrently deleted with PAX6 in aniridia cases but I cannot find evidence that variants in WT1 without PAX6 involvement cause aniridiaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072
Source NHS GMS was added to WT1. Mode of inheritance for gene WT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072 for gene: WT1
gene: WT1 was added gene: WT1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: WT1 was set to Phenotypes for gene: WT1 were set to Eye Disorders