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Common deletion and duplication syndromes v0.115 | ISCA-37430-Loss | Zornitza Stark Marked Region: ISCA-37430-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.115 | ISCA-37430-Loss | Zornitza Stark Region: isca-37430-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.115 | ISCA-37430-Loss | Zornitza Stark Classified Region: ISCA-37430-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.115 | ISCA-37430-Loss | Zornitza Stark Region: isca-37430-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.114 | ISCA-37430-Loss |
Zornitza Stark Region: ISCA-37430-Loss was added Region: ISCA-37430-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37430-Loss were set to Miller-Dieker lissencephaly syndrome, MIM# 247200 Review for Region: ISCA-37430-Loss was set to GREEN Added comment: Well established CNV, LIS1 gene deletion associated with lissencephaly. Sources: Expert list |