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Common deletion and duplication syndromes v0.23 | ISCA-37400-Gain | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37400-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.23 | ISCA-37400-Gain | Zornitza Stark Marked Region: ISCA-37400-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.23 | ISCA-37400-Gain | Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.23 | ISCA-37400-Gain | Zornitza Stark Classified Region: ISCA-37400-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.23 | ISCA-37400-Gain | Zornitza Stark Region: isca-37400-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.22 | ISCA-37400-Gain |
Zornitza Stark Region: ISCA-37400-Gain was added Region: ISCA-37400-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881 Phenotypes for Region: ISCA-37400-Gain were set to Chromosome 16p11.2 duplication syndrome, MIM# 614671; intellectual disability; autism Review for Region: ISCA-37400-Gain was set to GREEN Added comment: Well established recurrent CNV. Sources: Expert list |