Familial rhabdomyosarcoma
Gene: WT1EnsemblGeneIds (GRCh38): ENSG00000184937
EnsemblGeneIds (GRCh37): ENSG00000184937
OMIM: 607102, Gene2Phenotype
WT1 is in 18 panels
1 review
Helen Brittain (Genomics England Curator)
No clear evidence of rhabdomyosarcoma with WT1 germline variants. Initial report likely to be due to close proximity with BWS region on 11p15Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Wilms tumour 1, 194070
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Wilms tumour 1, 194070
- OMIM
- 607102
- Clinvar variants
- Variants in WT1
- Penetrance
- None
- Panels with this gene
-
- Sarcoma cancer susceptibility
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- Familial rhabdomyosarcoma
- Adult solid tumours for rare disease
- Structural eye disease
- Retinal disorders
- Embryonal tumour of possible germline origin
- Sarcoma susceptibility
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Differences in sex development
- Glaucoma (developmental)
- Fetal anomalies
- Proteinuric renal disease
- Childhood solid tumours cancer susceptibility
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for WT1 were set to Wilms tumour 1, 194070
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for WT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)WT1 was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)WT1 was created by Louise Daugherty