Genomics England
GMS Panels
Panels
Genes and Entities

RHEB

Ras homolog, mTORC1 binding
OMIM: 601293
PanelMode of inheritanceDetails
2 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy and cortical dysplasia
Green
in Mosaic brain disorders - deep sequencing
R-numbers: R429
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy and cortical dysplasia