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Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Marked Region: ISCA-37417-Loss as ready
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Classified Region: ISCA-37417-Loss as Green List (high evidence)
Common deletion and duplication syndromes v0.133 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.132 ISCA-37417-Loss Zornitza Stark Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Common deletion and duplication syndromes. Sources: Expert list
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, MIM# 308100
Review for Region: ISCA-37417-Loss was set to GREEN
Added comment: Well established CNV.
Sources: Expert list