Vascular Malformations_Germline
Gene: MTOREnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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, thus this gene is not suitable for a germline testing panel.Created: 21 Jan 2020, 12:34 a.m. | Last Modified: 21 Jan 2020, 12:34 a.m.
Panel Version: 0.29
Comment on mode of pathogenicity: Gain-of-function is the mechanism of diseaseCreated: 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 listCreated: 21 Jan 2020, 12:31 a.m.
Mode of inheritance
Other
Phenotypes
Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Smith-Kingsmore syndrome 616638
- Focal cortical dysplasia, type II, somatic 607341
- Tags
- 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
-
- Intellectual disability syndromic and non-syndromic
- Callosome
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Overgrowth
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Mosaic skin disorders
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mtor has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mtor has been classified as Red List (Low Evidence).
Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)Mode of pathogenicity for gene: MTOR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MTOR was added gene: MTOR was added to Inherited Vascular Malformations. Sources: Expert list somatic tags were added to gene: MTOR. Mode of inheritance for gene: MTOR was set to Other Publications for gene: MTOR were set to 28892148; 29174369 Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome 616638; Focal cortical dysplasia, type II, somatic 607341 Review for gene: MTOR was set to AMBER