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| Common deletion and duplication syndromes v0.109 | ISCA-37425-Loss | Zornitza Stark edited their review of Region: ISCA-37425-Loss: Changed phenotypes: Sotos syndrome, chromosome 5q35 deletion, intellectual disability, overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.109 | ISCA-37425-Loss | Zornitza Stark Marked Region: ISCA-37425-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.109 | ISCA-37425-Loss | Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.109 | ISCA-37425-Loss | Zornitza Stark Phenotypes for Region: ISCA-37425-Loss were changed from to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.108 | ISCA-37425-Loss | Zornitza Stark Classified Region: ISCA-37425-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.108 | ISCA-37425-Loss | Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.107 | ISCA-37425-Loss |
Zornitza Stark Region: ISCA-37425-Loss was added Region: ISCA-37425-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37425-Loss. Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37425-Loss were set to 23190751; 19596467 Review for Region: ISCA-37425-Loss was set to GREEN Added comment: Deletions of NSD1 are a common cause of Sotos syndrome. Sources: Expert list |
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