| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 | MTOR | Zornitza Stark Marked gene: MTOR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 | MTOR | Zornitza Stark Gene: mtor has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.39 | MTOR | Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.38 | MTOR | Zornitza Stark Publications for gene: MTOR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.37 | MTOR | Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.36 | MTOR | Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892148; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.17 | STRADA |
Paul De Fazio changed review comment from: Associated with PMSE (Polyhydramnios, megalencephaly, and symptomatic epilepsy). Link to TSC seems tenuous and is limited to the authors of PMID: 17522105 citing similarities to TSC in histological findings in an individual with biallelic STRADA deletions, and the fact that this gene is implicated in the mTORC pathway. This gene is an upstream inhibitor of mTORC1. Treatment with rapamycin reduces seizures in a mouse model (PMID: 23616120).; to: Associated with PMSE (Polyhydramnios, megalencephaly, and symptomatic epilepsy). Link to TSC seems tenuous and is limited to the authors of PMID: 17522105 citing similarities to TSC in histological findings in an individual with biallelic STRADA deletions, and the fact that this gene is implicated in the mTORC pathway. However megalencephaly is a common characteristic in almost all patients (summarised in PMID: 27170158). Reported patients include 7 distantly-related Mennonite children with the same 7kb deletion, plus two other separate unrelated individuals. This gene is an upstream inhibitor of mTORC1. Treatment with rapamycin reduces seizures in a mouse model (PMID: 23616120). |
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| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.0 | MTOR |
Zornitza Stark 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 |
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