Proteinuric renal disease
Gene: WT1EnsemblGeneIds (GRCh38): ENSG00000184937
EnsemblGeneIds (GRCh37): ENSG00000184937
OMIM: 607102, Gene2Phenotype
WT1 is in 18 panels
4 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: WT1; Suggested initial gene rating: green; Evidence for inclusion: none provided; Other comments: Well reported association with nephrotic syndromeCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Denys-Drash syndrome #194080; Frasier syndrome #136680; Wilms tumor, type 1 #194070
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Daniel Gale (UCL)
Maggie Williams (North Bristol NHS Trust)
Pathogenic variants exons 6-9. Multiple hits UK diagnostic panelCreated: 19 Oct 2015, 3:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital onset, urogenital anomalies, sex reversal
Publications
- Kidney International (2014) 85, 1169–1178
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Denys-Drash syndrome #194080
- Frasier syndrome #136680
- Wilms tumor, type 1 #194070
- OMIM
- 607102
- Clinvar variants
- Variants in WT1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Differences in sex development
- Familial rhabdomyosarcoma
- Wilms tumour with features suggestive of predisposition
- Adult solid tumours for rare disease
- Retinal disorders
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: WT1 were changed from to Denys-Drash syndrome #194080; Frasier syndrome #136680; Wilms tumor, type 1 #194070
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: WT1 were set to
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to WT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for WT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)WT1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)WT1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing