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| Common deletion and duplication syndromes v0.13 | ISCA-37392-Loss | Zornitza Stark Phenotypes for Region: ISCA-37392-Loss were changed from Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease to Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.12 | ISCA-37392-Loss | Zornitza Stark edited their review of Region: ISCA-37392-Loss: Changed phenotypes: Williams-Beuren syndrome, MIM# 194050, intellectual disability, growth retardation, cardiovascular disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.7 | ISCA-37392-Loss | Zornitza Stark Marked Region: ISCA-37392-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.7 | ISCA-37392-Loss | Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.7 | ISCA-37392-Loss | Zornitza Stark Classified Region: ISCA-37392-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.7 | ISCA-37392-Loss | Zornitza Stark Region: isca-37392-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.6 | ISCA-37392-Loss |
Zornitza Stark Region: ISCA-37392-Loss was added Region: ISCA-37392-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review SV/CNV tags were added to Region: ISCA-37392-Loss. Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37392-Loss were set to 20301427 Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease Review for Region: ISCA-37392-Loss was set to GREEN Added comment: Well established recurrent CNV. Sources: Expert Review |
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