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DDG2P

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MTOR-related Smith-Kingsmore syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 23934111, 28892148). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01220.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Smith-Kingsmore syndrome, OMIM:616638 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 28892148;23934111).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MTOR-related Smith-Kingsmore syndrome; OMIM:616638.0; MONDO:0014716; Smith-Kingsmore syndrome, OMIM:616638

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Smith-Kingsmore syndrome.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 4:38 p.m.
DDG2P mode of pathogenicity for both disorders: all missense/in frame. Multiple ratings in DD-G2P download: Rated confirmed for Smith-Kingsmore syndrome and rated possible for EPILEPTIC ENCEPHALOPATHY.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.55

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MTOR was changed from Other to None

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

7 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MTOR were changed from EPILEPTIC ENCEPHALOPATHY; Smith-Kingsmore syndrome to Smith-Kingsmore syndrome, OMIM:616638

7 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: MTOR.

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene MTOR was changed from Other - please provide details in the comments to Other Publications for gene: MTOR were updated from 28892148 to 23934111; 28892148

29 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: DDG2P mode of pathogenicity fo

28 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: MTOR.

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes Smith-Kingsmore syndrome for gene: MTOR Publications for gene MTOR were changed from 23934111 to 28892148

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: MTOR was added gene: MTOR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTOR were set to 23934111 Phenotypes for gene: MTOR were set to EPILEPTIC ENCEPHALOPATHY Mode of pathogenicity for gene: MTOR was set to Other - please provide details in the comments