Neurological segmental overgrowth

Gene: MTOR

Red List (low evidence)

MTOR (mechanistic target of rapamycin kinase)
EnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

PMID:22729223 reports that it remains to be determined whether the mTOR p.Cys1483Tyr variation in HME leads to increased signaling. It is likely however, that this mutation is a gain-of-function.
Created: 7 Nov 2016, 2:56 p.m.

Mode of pathogenicity

History Filter Activity

31 Jul 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: MTOR was added gene: MTOR was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: MTOR was set to Phenotypes for gene: MTOR were set to Segmental Overgrowth Syndrome; HME; Hemimegalencephaly