Segmental overgrowth disorders - Deep sequencing
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
-
- UKGTN
- Phenotypes
-
- Segmental Overgrowth Syndrome
- Hemimegalencephaly
- HME
- OMIM
- 601231
- Clinvar variants
- Variants in MTOR
- Penetrance
- Complete
- Publications
- 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
28 Nov 2016, Gel status: 1
panel promoted to version 1
Rebecca Foulger (Genomics England curator)28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
7 Nov 2016, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene MTOR were set to Segmental Overgrowth Syndrome; Hemimegalencephaly; HME
7 Nov 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)MTOR was created by rfoulger
7 Nov 2016, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)MTOR was added to Regional overgrowth disorderspanel. Sources: UKGTN