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| Common deletion and duplication syndromes v0.87 | ISCA-37436-Gain | Zornitza Stark Marked Region: ISCA-37436-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.87 | ISCA-37436-Gain | Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.87 | ISCA-37436-Gain | Zornitza Stark Phenotypes for Region: ISCA-37436-Gain were changed from Charcot-Marie-Tooth disease type 1A to Charcot-Marie-Tooth disease type 1A, MIM#118220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.86 | ISCA-37436-Gain | Zornitza Stark Classified Region: ISCA-37436-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.86 | ISCA-37436-Gain | Zornitza Stark Region: isca-37436-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.75 | ISCA-37436-Gain |
Elena Savva Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to PMID: 32648354 Phenotypes for Region: ISCA-37436-Gain were set to Charcot-Marie-Tooth disease type 1A Review for Region: ISCA-37436-Gain was set to GREEN Added comment: It is suspected that de novo CMT1A cases tend to exhibit relatively mild symptoms compared to non‐de novo cases Sources: Expert list |
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