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| Common deletion and duplication syndromes v0.77 | ISCA-37418-Gain | Zornitza Stark Marked Region: ISCA-37418-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.77 | ISCA-37418-Gain | Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.77 | ISCA-37418-Gain | Zornitza Stark Classified Region: ISCA-37418-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.77 | ISCA-37418-Gain | Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.76 | ISCA-37418-Gain |
Zornitza Stark Region: ISCA-37418-Gain was added Region: ISCA-37418-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies Review for Region: ISCA-37418-Gain was set to GREEN Added comment: Well established CNV. Reciprocal duplication of the 17p11.2 deletion causing Smith-Magenis syndrome. Sources: Expert list |
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