| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Progressive Myoclonic Epilepsy v0.15 | FBXO28 | Zornitza Stark Marked gene: FBXO28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.15 | FBXO28 | Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.15 | FBXO28 | Zornitza Stark Phenotypes for gene: FBXO28 were changed from Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy to Developmental and epileptic encephalopathy 100 , MIM#619777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.14 | FBXO28 | Zornitza Stark Classified gene: FBXO28 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.14 | FBXO28 | Zornitza Stark Gene: fbxo28 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.13 | FBXO28 | Zornitza Stark reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 100 , MIM#619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive Myoclonic Epilepsy v0.13 | FBXO28 |
Shekeeb Mohammad gene: FBXO28 was added gene: FBXO28 was added to Progressive Myoclonic Epilepsy. Sources: Literature Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXO28 were set to 33280099 Phenotypes for gene: FBXO28 were set to Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy Penetrance for gene: FBXO28 were set to unknown Review for gene: FBXO28 was set to GREEN gene: FBXO28 was marked as current diagnostic Added comment: Sources: Literature |
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