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| Common deletion and duplication syndromes v0.59 | ISCA-37501-Loss | Zornitza Stark Marked Region: ISCA-37501-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.59 | ISCA-37501-Loss | Zornitza Stark Region: isca-37501-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.59 | ISCA-37501-Loss | Zornitza Stark Phenotypes for Region: ISCA-37501-Loss were changed from Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355; intellectual disability; microcephaly; congenital anomalies; pulmonary hypertension | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.58 | ISCA-37501-Loss | Zornitza Stark Publications for Region: ISCA-37501-Loss were set to PMID: 20206336 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.57 | ISCA-37501-Loss | Zornitza Stark Classified Region: ISCA-37501-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.57 | ISCA-37501-Loss | Zornitza Stark Region: isca-37501-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.56 | ISCA-37501-Loss | Zornitza Stark reviewed Region: ISCA-37501-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31151956, 30639323; Phenotypes: Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355, intellectual disability, microcephaly, congenital anomalies, pulmonary hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37501-Loss |
Elena Savva Region: ISCA-37501-Loss was added Region: ISCA-37501-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37501-Loss were set to PMID: 20206336 Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 Review for Region: ISCA-37501-Loss was set to GREEN Added comment: These individuals have common features, including mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities. Sources: Expert list |
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