| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common deletion and duplication syndromes v0.81 | ISCA-37420-Loss | Zornitza Stark Marked Region: ISCA-37420-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.81 | ISCA-37420-Loss | Zornitza Stark Region: isca-37420-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.81 | ISCA-37420-Loss | Zornitza Stark Classified Region: ISCA-37420-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.81 | ISCA-37420-Loss | Zornitza Stark Region: isca-37420-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.80 | ISCA-37420-Loss |
Zornitza Stark Region: ISCA-37420-Loss was added Region: ISCA-37420-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37420-Loss. Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37420-Loss were set to Koolen-De Vries syndrome, MIM# 610443; intellectual disability; hypotonia; dysmorphic features Review for Region: ISCA-37420-Loss was set to GREEN Added comment: Well established CNV, features of KDVS due to KANSL1 deletion. Sources: Expert list |
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