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| Common deletion and duplication syndromes v0.153 | ISCA-46743-Gain | Zornitza Stark Marked Region: ISCA-46743-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.153 | ISCA-46743-Gain | Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.153 | ISCA-46743-Gain | Zornitza Stark Classified Region: ISCA-46743-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.153 | ISCA-46743-Gain | Zornitza Stark Region: isca-46743-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.152 | ISCA-46743-Gain | Sarah Milton Phenotypes for Region: ISCA-46743-Gain were changed from Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome to Xq25 duplication syndrome, MIM#300979 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.144 | ISCA-46743-Gain |
Sarah Milton Region: ISCA-46743-Gain was added Region: ISCA-46743-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-46743-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for Region: ISCA-46743-Gain were set to Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome Review for Region: ISCA-46743-Gain was set to GREEN Added comment: Established recurrent CNV associated with short stature, delayed development ID, carrier females may be affected. Sources: ClinGen |
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