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Glaucoma (developmental)

Gene: WT1

Red List (low evidence)

WT1 (Wilms tumor 1)
EnsemblGeneIds (GRCh38): ENSG00000184937
EnsemblGeneIds (GRCh37): ENSG00000184937
OMIM: 607102, Gene2Phenotype
WT1 is in 21 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

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

Ivone Leong (Genomics England Curator)

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

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

WT1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory