| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Progressive Myoclonic Epilepsy v0.13 | DNAJC5 | Bryony Thompson Marked gene: DNAJC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.13 | DNAJC5 | Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.13 | DNAJC5 | Bryony Thompson Classified gene: DNAJC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.13 | DNAJC5 | Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.13 | DNAJC5 | Bryony Thompson Gene: dnajc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.12 | DNAJC5 | Bryony Thompson Publications for gene: DNAJC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.0 | DNAJC5 |
Bryony Thompson gene: DNAJC5 was added gene: DNAJC5 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNAJC5 were set to autosomal dominant Kufs disease; generalized tonic clonic seizures; Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||