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| Common deletion and duplication syndromes v0.98 | ISCA-37446-Gain | Zornitza Stark Marked Region: ISCA-37446-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.98 | ISCA-37446-Gain | Zornitza Stark Region: isca-37446-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.98 | ISCA-37446-Gain | Zornitza Stark Phenotypes for Region: ISCA-37446-Gain were changed from Chromosome 22q11.2 microduplication syndrome MIM#608363 to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.97 | ISCA-37446-Gain | Zornitza Stark edited their review of Region: ISCA-37446-Gain: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.97 | ISCA-37446-Gain | Zornitza Stark reviewed Region: ISCA-37446-Gain: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.97 | ISCA-37446-Gain | Zornitza Stark Classified Region: ISCA-37446-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.97 | ISCA-37446-Gain | Zornitza Stark Region: isca-37446-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.71 | ISCA-37446-Gain |
Elena Savva Region: ISCA-37446-Gain was added Region: ISCA-37446-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37446-Gain were set to PMID: 18707033 Phenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363 Review for Region: ISCA-37446-Gain was set to GREEN Added comment: Established CNV Extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both de novo and familial reports Sources: Expert list |
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