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Newborns main panel

Gene: REST

Green List (high evidence)
REST (RE1 silencing transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000084093
EnsemblGeneIds (GRCh37): ENSG00000084093
OMIM: 600571, Gene2Phenotype
REST is in 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/26551668/ https://www.ejcancer.com/article/S0959-8049(21)00322-1/fulltext
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Wilms tumour predisposition
OMIM
600571
Clinvar variants
Variants in REST
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Wilms tumour predisposition for gene: REST

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to REST. Added phenotypes Wilms tumour predisposition for gene: REST Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: REST was added gene: REST was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: REST were set to Wilms tumour predisposition