Wilms Tumour
Gene: FBXW7EnsemblGeneIds (GRCh38): ENSG00000109670
EnsemblGeneIds (GRCh37): ENSG00000109670
OMIM: 606278, Gene2Phenotype
FBXW7 is in 4 panels
1 review
Chirag Patel (Genetic Health Queensland)
Some evidence for gene-disease association for Wilms tumour. Four cases of monoallelic truncating variants associated with sporadic Wilms tumour (possible incomplete penetrance).
Sources: Expert list, Expert Review, LiteratureCreated: 26 Sep 2024, 1:33 a.m. | Last Modified: 26 Sep 2024, 1:37 a.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wilms tumor, MONDO:0006058; Wilms tumour, no MIM#
Publications
- PMID: 30885698
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Expert Review
- Expert list
- Phenotypes
-
- Wilms tumor, MONDO:0006058
- Wilms tumour, no MIM#
- OMIM
- 606278
- Clinvar variants
- Variants in FBXW7
- Penetrance
- None
- Publications
-
- PMID: 30885698
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: fbxw7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: FBXW7 was added gene: FBXW7 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXW7 were set to PMID: 30885698 Phenotypes for gene: FBXW7 were set to Wilms tumor, MONDO:0006058; Wilms tumour, no MIM# Review for gene: FBXW7 was set to AMBER