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Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Marked Region: ISCA-37415-Gain as ready
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Classified Region: ISCA-37415-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.43 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.42 ISCA-37415-Gain Zornitza Stark Region: ISCA-37415-Gain was added
Region: ISCA-37415-Gain was added to Common deletion and duplication syndromes. Sources: Expert list
SV/CNV tags were added to Region: ISCA-37415-Gain.
Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37415-Gain were set to 30287593
Phenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy
Review for Region: ISCA-37415-Gain was set to GREEN
Added comment: 16p13.11 are associated with DD/ID/autism. Duplication contains MYH11, and there is also evidence of association with aortopathy.
Sources: Expert list