Segmental overgrowth disorders

Gene: MTOR

Red List (low evidence)

MTOR (mechanistic target of rapamycin kinase)
EnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 13 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

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