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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