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| Common deletion and duplication syndromes v0.56 | ISCA-46290-Gain | Zornitza Stark Marked Region: ISCA-46290-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.56 | ISCA-46290-Gain | Zornitza Stark Region: isca-46290-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.56 | ISCA-46290-Gain | Zornitza Stark Phenotypes for Region: ISCA-46290-Gain were changed from Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.55 | ISCA-46290-Gain | Zornitza Stark Publications for Region: ISCA-46290-Gain were set to PMID: 19716111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.54 | ISCA-46290-Gain | Zornitza Stark Classified Region: ISCA-46290-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.54 | ISCA-46290-Gain | Zornitza Stark Region: isca-46290-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.53 | ISCA-46290-Gain | Zornitza Stark reviewed Region: ISCA-46290-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 27605428, 29707408, 16900295; Phenotypes: Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801, intellectual disability, seizures; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-46290-Gain |
Elena Savva Region: ISCA-46290-Gain was added Region: ISCA-46290-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46290-Gain were set to PMID: 19716111 Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 Review for Region: ISCA-46290-Gain was set to GREEN Added comment: Males and females affected - Most affected females show preferential activation of the duplicated X chromosome. Sources: Expert list |
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