Neurological segmental overgrowthGene: MTOR
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
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