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| Common deletion and duplication syndromes v0.123 | ISCA-37432-Loss | Zornitza Stark Marked Region: ISCA-37432-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.123 | ISCA-37432-Loss | Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.123 | ISCA-37432-Loss | Zornitza Stark Phenotypes for Region: ISCA-37432-Loss were changed from Chromosome 17q12 deletion syndrome MIM#614527 to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.122 | ISCA-37432-Loss | Zornitza Stark Classified Region: ISCA-37432-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.122 | ISCA-37432-Loss | Zornitza Stark Region: isca-37432-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.119 | ISCA-37432-Loss |
Elena Savva Region: ISCA-37432-Loss was added Region: ISCA-37432-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37432-Loss were set to PMID: 19844256 Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527 Review for Region: ISCA-37432-Loss was set to GREEN Added comment: Established CNV Includes HNF1B resulting in renal cysts and diabetes syndrome - cognitive impairment impairment is rare Sources: Expert list |
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