Malformations of cortical development
Gene: MTOR
MTOR (mechanistic target of rapamycin kinase)
EnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 11 panels
2 reviews
Rebecca Foulger (Genomics England curator)
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.
Ellen McDonagh (Genomics England Curator)
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
Phenotypes
Focal cortical dysplasia, type II, somatic 607341
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Focal cortical dysplasia, type II, somatic 607341
- Tags
- OMIM
- 601231
- Clinvar variants
- Variants in MTOR
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- DDG2P
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Fetal anomalies
- Pigmentary skin disorders
- COVID-19 research
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Malformations of cortical development
- Intellectual disability
History Filter Activity
1 Nov 2018, Gel status: 3
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: mtor has been classified as Green List (High Evidence).
22 Sep 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
22 Sep 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MTOR was added to Malformations of cortical developmentpanel. Sources: Literature
22 Sep 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MTOR was created by ellenmcdonagh