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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