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Vascular Malformations_Somatic

Gene: MTOR

Amber List (moderate evidence)
MTOR (mechanistic target of rapamycin kinase)
EnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Vascular malformations are not a prominent feature of the condition caused by germline variants in this gene. Somatic activating mutations are possibly associated with vascular malformations.
Created: 21 Jan 2020, 12:34 a.m. | Last Modified: 1 Jul 2020, 11:33 p.m.
Panel Version: 0.9
Comment on mode of pathogenicity: Gain-of-function is the mechanism of disease
Created: 21 Jan 2020, 12:32 a.m. | Last Modified: 21 Jan 2020, 12:32 a.m.
Panel Version: 0.28
Haemangiomas are not a prominent feature of Smith-Kingsmore syndrome, which is caused by germline variants in MTOR (PMID: 28892148). A somatic MTOR (p.F1888L) variant was detected in a subject with macrodactyly and bilateral venous malformation of the lower extremities (PMID: 29174369). mTOR inhibitors are important in the management of vascular anomalies. It appears activating mutations in genes in the mTOR pathway are causative of vascular malformations rather than activating mutations in MTOR itself.
Sources: Expert list
Created: 21 Jan 2020, 12:31 a.m.

Mode of inheritance
Other

Phenotypes
Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341

Publications

Created: 21 Jan 2020, 12:31 a.m.
Last Modified: 1 Jul 2020, 11:33 p.m.
Panel version: Imported from Inherited Vascular Malformations panel version 0.27

Details

Mode of Inheritance
Other
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Smith-Kingsmore syndrome 616638
  • Focal cortical dysplasia, type II, somatic 607341
OMIM
601231
Clinvar variants
Variants in MTOR
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtor has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtor has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTOR was added gene: MTOR was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: MTOR was set to Other Publications for gene: MTOR were set to 29174369; 28892148 Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341 Mode of pathogenicity for gene: MTOR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments