| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 | PTEN | Zornitza Stark Marked gene: PTEN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 | PTEN | Zornitza Stark Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 | PTEN | Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1 158350; Lhermitte-Duclos syndrome 158350; Macrocephaly/autism syndrome 605309 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.9 | PTEN | Zornitza Stark Publications for gene: PTEN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.8 | PTEN | Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.7 | PTEN | Lauren Akesson reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32162846; Phenotypes: Cowden syndrome 1 158350, Lhermitte-Duclos syndrome 158350, Macrocephaly/autism syndrome 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN 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: PTEN was set to Unknown |
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