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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 |
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