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Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Marked Region: ISCA-37393-Gain as ready
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Classified Region: ISCA-37393-Gain as Green List (high evidence)
Common deletion and duplication syndromes v0.9 ISCA-37393-Gain Zornitza Stark Region: isca-37393-gain has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.8 ISCA-37393-Gain Zornitza Stark Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Review for Region: ISCA-37393-Gain was set to GREEN
Added comment: Well established CNV.
Sources: Expert Review