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| Common deletion and duplication syndromes v1.7 | ISCA-37447-Loss | Sarah Milton Marked Region: ISCA-37447-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v1.7 | ISCA-37447-Loss | Sarah Milton Region: isca-37447-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v1.7 | ISCA-37447-Loss | Sarah Milton Classified Region: ISCA-37447-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v1.7 | ISCA-37447-Loss | Sarah Milton Region: isca-37447-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v1.6 | ISCA-37447-Loss |
Sarah Milton Region: ISCA-37447-Loss was added Region: ISCA-37447-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen SV/CNV tags were added to Region: ISCA-37447-Loss. Mode of inheritance for Region: ISCA-37447-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for Region: ISCA-37447-Loss were set to 41926606; 39446997 Phenotypes for Region: ISCA-37447-Loss were set to Temple syndrome MIM#616222; Kagami-Ogata syndrome MIM#608149 Review for Region: ISCA-37447-Loss was set to GREEN Added comment: This entry defines a region on chromosome 14 associated with Temple syndrome and Kagami Ogata syndrome. This syndromes are typically caused by maternal UPD or paternal UPD of chromosome 14 respectively. The defined region in this entry contains MEG3 - long non coding RNA, maternally expressed. DLK1 - paternally expressed protein coding gene which is an epidermal growth factor This region is imprinted with maternal deletions resulting in Kagami Ogata syndrome and paternal deletions resulting in Temple syndrome. Other causes of these syndromes include abnormal methylation of MEG3/DLK1 DMR or MEG3::TSS-DMR. Sources: ClinGen |
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