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| Common deletion and duplication syndromes v0.121 | ISCA-37432-Gain | Zornitza Stark Marked Region: ISCA-37432-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.121 | ISCA-37432-Gain | Zornitza Stark Region: isca-37432-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.121 | ISCA-37432-Gain | Zornitza Stark Phenotypes for Region: ISCA-37432-Gain were changed from Chromosome 17q12 duplication syndrome 614526 to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.120 | ISCA-37432-Gain | Zornitza Stark Classified Region: ISCA-37432-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.120 | ISCA-37432-Gain | Zornitza Stark Region: isca-37432-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.119 | ISCA-37432-Gain |
Elena Savva Region: ISCA-37432-Gain was added Region: ISCA-37432-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37432-Gain were set to PMID: 19844256 Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526 Review for Region: ISCA-37432-Gain was set to GREEN Added comment: Established CNV Cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. OMIM notes healthy carriers with minor behavioural issues have been reported Sources: Expert list |
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