Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genetic Epilepsy v0.2074 | PPT1 | Zornitza Stark Marked gene: PPT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2074 | PPT1 | Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2074 | PPT1 | Zornitza Stark Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; MONDO:0009744 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2073 | PPT1 | Zornitza Stark Publications for gene: PPT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2072 | PPT1 | Zornitza Stark Mode of inheritance for gene: PPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2071 | PPT1 | Zornitza Stark changed review comment from: Well established gene-disease association. Variable age of onset and severity.; to: Well established gene-disease association. Variable age of onset and severity Seizures are part of the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.0 | PPT1 |
Zornitza Stark gene: PPT1 was added gene: PPT1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPT1 was set to Unknown |