Malformations of cortical developmentGene: MTOR
Comment on list classification: Promoted from Amber to Green due to ID panel review there is enough evidence to support MTOR and Focal cortical dysplasia, type II.
Created: 1 Nov 2018, 3:19 p.m.
De novo somatic variants in this gene have been reported in brain tissue of patients with seizures due to focal cortical dysplasia type 2, in more than 6 patients (PMID: 26018084;27830187;25878179). PMID:27830187 also reports an inherited variant identified in a mother-daughter pair with nonlesional autosomal dominant nocturnal frontal lobe epilepsy. Functional in vitro studies in PMID: 26018084 indicate that the mechanism of action may be activating somatic mutations.
Created: 22 Sep 2017, 1:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Focal cortical dysplasia, type II, somatic 607341
Mode of pathogenicity
Gene: mtor has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
MTOR was added to Malformations of cortical developmentpanel. Sources: Literature
MTOR was created by ellenmcdonagh