Glaucoma (developmental)

Gene: WT1

Red List (low evidence)

WT1 is often concurrently deleted with PAX6 in aniridia cases but I cannot find evidence that variants in WT1 without PAX6 involvement cause aniridia

Created: 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

Red List (low evidence)

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 aniridia

Created: 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