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| Common deletion and duplication syndromes v0.104 | ISCA-37424-Loss | Zornitza Stark Marked Region: ISCA-37424-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.104 | ISCA-37424-Loss | Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.104 | ISCA-37424-Loss | Zornitza Stark Classified Region: ISCA-37424-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.104 | ISCA-37424-Loss | Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.103 | ISCA-37424-Loss |
Zornitza Stark Region: ISCA-37424-Loss was added Region: ISCA-37424-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37424-Loss. Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37424-Loss were set to 20345475; 25846706 Phenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly Review for Region: ISCA-37424-Loss was set to GREEN Added comment: Established CNV. Note deletions typically include BMPR1A and sometimes PTEN, which have implications for cancer surveillance. Sources: Expert list |
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