Structural eye disease
Gene: WT1EnsemblGeneIds (GRCh38): ENSG00000184937
EnsemblGeneIds (GRCh37): ENSG00000184937
OMIM: 607102, Gene2Phenotype
WT1 is in 18 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
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
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072
- Eye Disorders
- OMIM
- 607102
- Clinvar variants
- Variants in WT1
- Penetrance
- None
- Panels with this gene
-
- Sarcoma cancer susceptibility
- Differences in sex development
- Cytopenias and congenital anaemias
- Structural eye disease
- Wilms tumour with features suggestive of predisposition
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Adult solid tumours for rare disease
- Retinal disorders
- Sarcoma susceptibility
- Unexplained kidney failure in young people
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Proteinuric renal disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Childhood solid tumours cancer susceptibility
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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