Wilms Tumour

Gene: REST

Green List (high evidence)

REST (RE1 silencing transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000084093
EnsemblGeneIds (GRCh37): ENSG00000084093
OMIM: 600571, Gene2Phenotype
REST is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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, Literature
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Wilms tumor, MONDO:0006058
  • Wilms tumor 6, MONDO:0014779
  • Wilms tumor 6, susceptibility to, MIM#616806
OMIM
600571
Clinvar variants
Variants in REST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rest has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rest has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

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