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| Common deletion and duplication syndromes v0.21 | ISCA-37397-Loss | Zornitza Stark Marked Region: ISCA-37397-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.21 | ISCA-37397-Loss | Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.21 | ISCA-37397-Loss | Zornitza Stark Classified Region: ISCA-37397-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.21 | ISCA-37397-Loss | Zornitza Stark Region: isca-37397-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.20 | ISCA-37397-Loss |
Zornitza Stark changed review comment from: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome. Sources: Expert list; to: Well established recurrent CNV, distinct from the proximal 22q11.2 deletion causing VCFS/DiGeorge syndrome. Sources: Expert list |
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| Common deletion and duplication syndromes v0.20 | ISCA-37397-Loss |
Zornitza Stark Region: ISCA-37397-Loss was added Region: ISCA-37397-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37397-Loss. Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902 Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies Review for Region: ISCA-37397-Loss was set to GREEN Added comment: Well established recurrent CNV, distinct from the proximal 22.q11.2 deletion causing VCFS/DiGeorge syndrome. Sources: Expert list |
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