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| Common deletion and duplication syndromes v0.75 | ISCA-37486-Loss | Zornitza Stark Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.74 | ISCA-37486-Loss | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37486-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.71 | ISCA-37486-Loss | Zornitza Stark Marked Region: ISCA-37486-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.71 | ISCA-37486-Loss | Zornitza Stark Region: isca-37486-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.71 | ISCA-37486-Loss | Zornitza Stark Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913 to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.70 | ISCA-37486-Loss | Zornitza Stark Publications for Region: ISCA-37486-Loss were set to PMID: 19914906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.69 | ISCA-37486-Loss | Zornitza Stark Classified Region: ISCA-37486-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.69 | ISCA-37486-Loss | Zornitza Stark Region: isca-37486-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.68 | ISCA-37486-Loss | Zornitza Stark reviewed Region: ISCA-37486-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 32993859, 32732550, 32597026, 32537635; Phenotypes: Chromosome 16p11.2 deletion syndrome MIM#611913, distal BP2-BP3, intellectual disability, autism, obesity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37486-Loss |
Elena Savva Region: ISCA-37486-Loss was added Region: ISCA-37486-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37486-Loss were set to PMID: 19914906 Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913 Review for Region: ISCA-37486-Loss was set to GREEN Added comment: Established CNV The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%) One subject with the deletion was asymptomatic Sources: Expert list |
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