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Epileptic encephalopathy

Gene: MTOR

Green List (high evidence)

MTOR (mechanistic target of rapamycin kinase)
EnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 . Helen Brittain (Genomics England Curator) Comment on mode of pathogenicity: Note: only missense variants have been reported to date. The relevant spectrum of variants may be limited (? consistent with gain of function). The pick up re somatic mosaic variants is likely to be limited (re focal cortical dysplasia phenotype) however if detected, they could be of clinical relevance. 5 Mar 2018, 12:14 p.m.
5 Mar 2018, 4:24 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.
22 Sep 2017, 1:19 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
  • Other
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
mosaicism somatic
OMIM
601231
Clinvar variants
Variants in MTOR
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

5 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene 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

Created

Ellen McDonagh (Genomics England Curator)

MTOR was created by ellenmcdonagh

22 Sep 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MTOR was added to Epileptic encephalopathypanel. Sources: Other