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| Common deletion and duplication syndromes v0.92 | ISCA-37440-Loss | Zornitza Stark Marked Region: ISCA-37440-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.92 | ISCA-37440-Loss | Zornitza Stark Region: isca-37440-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.92 | ISCA-37440-Loss | Zornitza Stark Phenotypes for Region: ISCA-37440-Loss were changed from 2p21 deletion syndrome to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.91 | ISCA-37440-Loss | Zornitza Stark Classified Region: ISCA-37440-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.91 | ISCA-37440-Loss | Zornitza Stark Region: isca-37440-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.75 | ISCA-37440-Loss |
Elena Savva Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250 Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome Review for Region: ISCA-37440-Loss was set to GREEN Added comment: Established CNV Includes the deletion of SLC3A1, PREPL, C2orf34 and PPM1B Hypotonia-cystinuria syndrome is the deletion of only SLC3A1 and PREPL Sources: Expert list |
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