Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Common deletion and duplication syndromes v0.83 | ISCA-37421-Gain | Zornitza Stark Marked Region: ISCA-37421-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.83 | ISCA-37421-Gain | Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.83 | ISCA-37421-Gain | Zornitza Stark Classified Region: ISCA-37421-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.83 | ISCA-37421-Gain | Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.82 | ISCA-37421-Gain |
Zornitza Stark Region: ISCA-37421-Gain was added Region: ISCA-37421-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37421-Gain. Mode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37421-Gain were set to 32655619 Phenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome, MIM# 612475; intellectual disability; autism; macrocephaly Review for Region: ISCA-37421-Gain was set to GREEN Added comment: Well established CNV Sources: Expert list |