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Intellectual disability syndromic and non-syndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

MTOR has been definitively associated with overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, multiple unrelated families, and functional data including animal models. Gain-of-function demonstrated. ClinGen suggests lumping the germline and somatic entities as underlying mechanism is the same.
Created: 15 May 2022, 1:24 a.m. | Last Modified: 15 May 2022, 1:24 a.m.
Panel Version: 0.4770

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Smith-Kingsmore syndrome, MIM# 616638
  • Focal cortical dysplasia, type II, somatic, MIM# 607341
  • Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
OMIM
601231
Clinvar variants
Variants in MTOR
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

15 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283

15 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTOR were set to

15 May 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

15 May 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 Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTOR was added gene: MTOR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTOR was set to Unknown