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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