Neurological segmental overgrowth
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
1 review
Rebecca Foulger (Genomics England curator)
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
Other
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- Segmental Overgrowth Syndrome
- HME
- Hemimegalencephaly
- OMIM
- 601231
- Clinvar variants
- Variants in MTOR
- Penetrance
- None
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- Early onset or syndromic epilepsy
- DDG2P
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- COVID-19 research
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Malformations of cortical development
History Filter Activity
31 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)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