Mosaic brain disorders - deep sequencing
Gene: MTOREnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 11 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Focal cortical dysplasia, type II, somatic, OMIM:607341; Smith-Kingsmore syndrome, OMIM:616638
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
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:28 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: post zygotic mosaicism, also can be AD. Publications: For recent summary see Nguyen and Bordey 2021, Frontiers in Neuroanatomy, Muhlebner et al 2019, J Anat. Mechanism: Gain of function (MTOR hyperactivation). Penetrance: variable penetrance.Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2
Phenotypes
Focal cortical dysplasia, Smith Kingsmore syndrome
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Focal cortical dysplasia, type II, somatic, OMIM:607341
- Smith-Kingsmore syndrome, OMIM:616638
- 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
-
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Pigmentary skin disorders
- Early onset or syndromic epilepsy
- COVID-19 research
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Malformations of cortical development
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to MTOR.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MTOR were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: mtor has been classified as Green List (High Evidence).
Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)Mode of pathogenicity for gene: MTOR was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MTOR were changed from to Focal cortical dysplasia, type II, somatic, OMIM:607341; Smith-Kingsmore syndrome, OMIM:616638
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: MTOR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: MTOR was added gene: MTOR was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: MTOR was set to