Segmental overgrowth disordersGene: 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
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
Phenotypes for gene MTOR were set to Segmental Overgrowth Syndrome; Hemimegalencephaly; HME
MTOR was created by rfoulger
MTOR was added to Regional overgrowth disorderspanel. Sources: UKGTN