Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Common deletion and duplication syndromes v0.28 | ISCA-46299-Gain | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-46299-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.28 | ISCA-46299-Gain | Zornitza Stark Marked Region: ISCA-46299-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.28 | ISCA-46299-Gain | Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.28 | ISCA-46299-Gain | Zornitza Stark Classified Region: ISCA-46299-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.28 | ISCA-46299-Gain | Zornitza Stark Region: isca-46299-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.27 | ISCA-46299-Gain |
Elena Savva Region: ISCA-46299-Gain was added Region: ISCA-46299-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-46299-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-46299-Gain were set to PMID: 22840365 Phenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705 Review for Region: ISCA-46299-Gain was set to GREEN Added comment: Well known CNV Sources: Expert list |