Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: MTOR

Green List (high evidence)

MTOR (mechanistic target of rapamycin kinase)
EnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017; Paper in press with AJHG. Activating mutations. We wil be reporting variants in clinical practice soon
Sources: Expert list
Created: 31 May 2019, 11:05 a.m.

Mode of inheritance
Other

Phenotypes
Overgrowth with Intellectual disability; Human overgrowth syndrome type

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Overgrowth with Intellectual disability
  • Human overgrowth syndrome type
OMIM
601231
Clinvar variants
Variants in MTOR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: MTOR was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

31 May 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MTOR were set to 28475857

31 May 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mtor has been classified as Green List (High Evidence).

31 May 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: MTOR was added gene: MTOR was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: MTOR was set to Other Publications for gene: MTOR were set to 28475857 Phenotypes for gene: MTOR were set to Overgrowth with Intellectual disability; Human overgrowth syndrome type Review for gene: MTOR was set to GREEN