| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lissencephaly and Band Heterotopia v0.62 | OSGEP | Zornitza Stark Marked gene: OSGEP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.62 | OSGEP | Zornitza Stark Gene: osgep has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.62 | OSGEP | Zornitza Stark Classified gene: OSGEP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.62 | OSGEP | Zornitza Stark Gene: osgep has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.60 | OSGEP |
Naomi Baker changed review comment from: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). Sources: Literature; to: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). Another reports describes OSGEP mutations in multiple individuals, with at least three reported as having pachygyria (PMID:28805828). Sources: Literature |
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| Lissencephaly and Band Heterotopia v0.60 | OSGEP |
Naomi Baker gene: OSGEP was added gene: OSGEP was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to PMID: 30558655 Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#617729 Penetrance for gene: OSGEP were set to Complete Review for gene: OSGEP was set to GREEN Added comment: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). Sources: Literature |
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