| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Common deletion and duplication syndromes v0.94 | ISCA-37441-Loss | Zornitza Stark Marked Region: ISCA-37441-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.94 | ISCA-37441-Loss | Zornitza Stark Region: isca-37441-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.94 | ISCA-37441-Loss | Zornitza Stark Phenotypes for Region: ISCA-37441-Loss were changed from Potocki-Shaffer syndrome MIM#601224 to Potocki-Shaffer syndrome MIM#601224; intellectual disability; multiple exostoses; biparietal foramina | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.93 | ISCA-37441-Loss | Zornitza Stark Classified Region: ISCA-37441-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.93 | ISCA-37441-Loss | Zornitza Stark Region: isca-37441-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.75 | ISCA-37441-Loss |
Elena Savva Region: ISCA-37441-Loss was added Region: ISCA-37441-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37441-Loss were set to PMID: 20140962 Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome MIM#601224 Review for Region: ISCA-37441-Loss was set to GREEN Added comment: Established CNV Craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||