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  3. MTOR
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Fetal anomalies

Gene: MTOR

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

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip. May present in fetal period with macrocephaly, macrosomia, corpus callosal abnormalities.
Created: 31 Jan 2022, 1:08 a.m. | Last Modified: 31 Jan 2022, 1:08 a.m.
Panel Version: 0.2948

Phenotypes
Smith-Kingsmore syndrome, MIM#616638

Created: 31 Jan 2022, 1:08 a.m.
Last Modified: 31 Jan 2022, 1:08 a.m.
Panel version: 0.2948

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two de novo missense variants reported in this cohort, along with other variants involved in the MTOR pathway. GOF postulated.
Sources: Literature
Created: 24 Oct 2020, 2:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hydrocephalus; macrocephaly

Publications

Mode of pathogenicity
Other

Created: 24 Oct 2020, 2:37 a.m.

Panel version: Imported from Hydrocephalus_Ventriculomegaly panel version 0.68

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Smith-Kingsmore syndrome, MIM# 616638
OMIM
601231
Clinvar variants
Variants in MTOR
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTOR were set to

1 Feb 2022, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: MTOR was changed from to Other

1 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MTOR was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

31 Jan 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: MTOR were changed from Smith-Kingsmore syndrome to Smith-Kingsmore syndrome, MIM# 616638

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTOR was added gene: MTOR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome