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| Common deletion and duplication syndromes v0.137 | ISCA-37467-Gain | Zornitza Stark Marked Region: ISCA-37467-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.137 | ISCA-37467-Gain | Zornitza Stark Region: isca-37467-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.137 | ISCA-37467-Gain | Zornitza Stark Classified Region: ISCA-37467-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.137 | ISCA-37467-Gain | Zornitza Stark Region: isca-37467-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.136 | ISCA-37467-Gain |
Zornitza Stark Region: ISCA-37467-Gain was added Region: ISCA-37467-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787 Phenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM# 186200; limb anomalies; congenital heart disease; congenital anomalies Review for Region: ISCA-37467-Gain was set to GREEN Added comment: The ZPA regulatory sequence (ZRS) of SHH is located within intron 5 of LMBR1. Multiple reports of isolated and syndromic limb anomalies in association with duplications of this region. Sources: Expert list |
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