| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v1.11 | Sarah Milton Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v1.11 | ISCA-37440-Loss |
Sarah Milton Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Mitochondrial disease. Sources: Expert Review Green,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; Hypotonia-cystinuria syndrome, MIM# 606407 |
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