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Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Marked Region: ISCA-37400-Loss as ready
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Classified Region: ISCA-37400-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.25 ISCA-37400-Loss Zornitza Stark Region: isca-37400-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.24 ISCA-37400-Loss Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37400-Loss.
Common deletion and duplication syndromes v0.24 ISCA-37400-Loss Zornitza Stark Region: ISCA-37400-Loss was added
Region: ISCA-37400-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37400-Loss were set to Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913; autism; intellectual disability; seizures
Review for Region: ISCA-37400-Loss was set to GREEN
Added comment: Well established recurrent CNV.
Sources: Expert list