Wilms Tumour
Gene: REST
Evidence for gene-disease association for Wilms tumour.
11 different inactivating mutations in the REST gene in 4 familial Wilms tumor pedigrees and 9 non-familial cases. All variants were absent from ICR1000 control series and ExAC series. A second mutational event was found in two tumors, suggesting that REST may act as a tumor-suppressor gene in Wilms tumor pathogenesis. Ten of 11 mutations clustered within the portion of REST encoding the DNA-binding domain, and functional analyses showed that these mutations compromise REST transcriptional repression.
Sources: Expert list, Expert Review, LiteratureCreated: 26 Sep 2024, 1:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wilms tumor, MONDO:0006058; Wilms tumor 6, MONDO:0014779; Wilms tumor 6, susceptibility to, MIM#616806
Publications
Gene: rest has been classified as Green List (High Evidence).
Gene: rest has been classified as Green List (High Evidence).
gene: REST was added gene: REST was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REST were set to PMID: 26551668 Phenotypes for gene: REST were set to Wilms tumor, MONDO:0006058; Wilms tumor 6, MONDO:0014779; Wilms tumor 6, susceptibility to, MIM#616806 Review for gene: REST was set to GREEN