Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Gene: MTOREnsemblGeneIds (GRCh38): ENSG00000198793
EnsemblGeneIds (GRCh37): ENSG00000198793
OMIM: 601231, Gene2Phenotype
MTOR is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hemimegalencephaly is a feature.
Note somatic variants in MTOR are a cause of focal cortical dysplasia.Created: 16 Jan 2021, 11:17 a.m. | Last Modified: 16 Jan 2021, 11:17 a.m.
Panel Version: 0.36
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Smith-Kingsmore syndrome, MIM# 616638
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- Smith-Kingsmore syndrome, MIM# 616638
- OMIM
- 601231
- Clinvar variants
- Variants in MTOR
- Penetrance
- None
- Publications
- 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MTOR were set to
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
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 Tuberous sclerosis, cortical dysplasia and hemimegalencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MTOR was set to Unknown