| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common deletion and duplication syndromes v1.0 | ISCA-46300-Loss | Region ISCA-46300-Loss: gene migrated from ENSG00000169375 to ENSG00000169375 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.163 | ISCA-46300-Loss | Sarah Milton Classified Region: ISCA-46300-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.163 | ISCA-46300-Loss | Sarah Milton Region: isca-46300-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.142 | ISCA-46300-Loss |
Sarah Milton Region: ISCA-46300-Loss was added Region: ISCA-46300-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-46300-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-46300-Loss were set to Chromosome 15q24 deletion syndrome, MONDO:0013256 Review for Region: ISCA-46300-Loss was set to GREEN Added comment: Established recurrent CNV, distal breakpoints, defined in clingen as HI3 Sources: ClinGen |
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