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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