| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Common deletion and duplication syndromes v0.45 | ISCA-37415-Loss | Zornitza Stark Marked Region: ISCA-37415-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37415-Loss | Zornitza Stark Region: isca-37415-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37415-Loss | Zornitza Stark Classified Region: ISCA-37415-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37415-Loss | Zornitza Stark Region: isca-37415-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.44 | ISCA-37415-Loss |
Zornitza Stark Region: ISCA-37415-Loss was added Region: ISCA-37415-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37415-Loss. Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37415-Loss were set to 24105370; 23637818; 22523559 Phenotypes for Region: ISCA-37415-Loss were set to 16p13.11 microdeletion syndrome; intellectual disability; autism; epilepsy Review for Region: ISCA-37415-Loss was set to GREEN Added comment: Well established CNV. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||