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| Common deletion and duplication syndromes v0.79 | ISCA_37418-Loss | Zornitza Stark Marked Region: ISCA_37418-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.79 | ISCA_37418-Loss | Zornitza Stark Region: isca_37418-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.79 | ISCA_37418-Loss | Zornitza Stark Classified Region: ISCA_37418-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.79 | ISCA_37418-Loss | Zornitza Stark Region: isca_37418-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.78 | ISCA_37418-Loss |
Zornitza Stark Region: ISCA_37418-Loss was added Region: ISCA_37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA_37418-Loss. Mode of inheritance for Region: ISCA_37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA_37418-Loss were set to Smith-Magenis syndrome, MIM# 182290; intellectual disability; dysmorphic features; behavioural issues Review for Region: ISCA_37418-Loss was set to GREEN Added comment: Well established CNV, features of SMS due to RAI1 deletion. Sources: Expert list |
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