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| 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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