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| Common deletion and duplication syndromes v0.62 | ISCA-37500-Loss | Zornitza Stark Marked Region: ISCA-37500-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.62 | ISCA-37500-Loss | Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.62 | ISCA-37500-Loss | Zornitza Stark Phenotypes for Region: ISCA-37500-Loss were changed from Chromosome 15q25 deletion syndrome MIM#614294 to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.61 | ISCA-37500-Loss | Zornitza Stark Publications for Region: ISCA-37500-Loss were set to PMID: 20921022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.60 | ISCA-37500-Loss | Zornitza Stark Classified Region: ISCA-37500-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.60 | ISCA-37500-Loss | Zornitza Stark Region: isca-37500-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.59 | ISCA-37500-Loss | Zornitza Stark reviewed Region: ISCA-37500-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 24352913; Phenotypes: Chromosome 15q25 deletion syndrome MIM#614294, intellectual disability, congenital abnormalities, haematological abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37500-Loss |
Elena Savva commented on Region: ISCA-37500-Loss: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects. Contains an imprinted region |
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| Common deletion and duplication syndromes v0.45 | ISCA-37500-Loss |
Elena Savva Region: ISCA-37500-Loss was added Region: ISCA-37500-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37500-Loss were set to PMID: 20921022 Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294 Review for Region: ISCA-37500-Loss was set to GREEN Added comment: Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects. Sources: Expert list |
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