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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