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| Common deletion and duplication syndromes v0.113 | ISCA-37430-Gain | Zornitza Stark Marked Region: ISCA-37430-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.113 | ISCA-37430-Gain | Zornitza Stark Region: isca-37430-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.113 | ISCA-37430-Gain | Zornitza Stark Classified Region: ISCA-37430-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.113 | ISCA-37430-Gain | Zornitza Stark Region: isca-37430-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.112 | ISCA-37430-Gain |
Zornitza Stark Region: ISCA-37430-Gain was added Region: ISCA-37430-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37430-Gain. Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37430-Gain were set to Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215; intellectual disability Review for Region: ISCA-37430-Gain was set to GREEN Added comment: Well established CNV, involving the LIS1 and/or YWHAE genes. Individuals with LIS1 duplications have brain abnormalities, including microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tend to have macrosomia, facial dysmorphism, and mild developmental delay. Sources: Expert list |
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