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| Common deletion and duplication syndromes v0.41 | ISCA-37411-Loss | Zornitza Stark Marked Region: ISCA-37411-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.41 | ISCA-37411-Loss | Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.41 | ISCA-37411-Loss | Zornitza Stark Classified Region: ISCA-37411-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.41 | ISCA-37411-Loss | Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.40 | ISCA-37411-Loss | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37411-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.40 | ISCA-37411-Loss |
Zornitza Stark Region: ISCA-37411-Loss was added Region: ISCA-37411-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for Region: ISCA-37411-Loss were set to 19372089; 20979196 Phenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy Review for Region: ISCA-37411-Loss was set to GREEN Added comment: Well established CNV, variable penetrance and expressivity. Individuals with homozygous deletions have neurodevelopmental problems, hypotonia, epileptic encephalopathy. Sources: Expert list |
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