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| Common deletion and duplication syndromes v0.65 | ISCA-37494-Gain | Zornitza Stark Marked Region: ISCA-37494-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.65 | ISCA-37494-Gain | Zornitza Stark Region: isca-37494-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.65 | ISCA-37494-Gain | Zornitza Stark Phenotypes for Region: ISCA-37494-Gain were changed from Chromosome Xq28 duplication syndrome MIM#300815 to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.64 | ISCA-37494-Gain | Zornitza Stark Publications for Region: ISCA-37494-Gain were set to PMID: 25927380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.63 | ISCA-37494-Gain | Zornitza Stark Classified Region: ISCA-37494-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.63 | ISCA-37494-Gain | Zornitza Stark Region: isca-37494-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.62 | ISCA-37494-Gain | Zornitza Stark reviewed Region: ISCA-37494-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301461, 32043567, 32112660; Phenotypes: Chromosome Xq28 duplication syndrome MIM#300815, intellectual disability, hypotonia, seizures, spasticity, recurrent respiratory infections; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37494-Gain |
Elena Savva Region: ISCA-37494-Gain was added Region: ISCA-37494-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37494-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) Publications for Region: ISCA-37494-Gain were set to PMID: 25927380 Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815 Review for Region: ISCA-37494-Gain was set to GREEN Added comment: Established CNV This syndrome has recently been described in 9 males with cognitive impairment, behavioral problems, and distinctive facial features; and 6 females with milder phenotypes. Prenatally diagnosed de novo int22h1/int22h2-mediated deletion in a healthy female infant. Sources: Expert list |
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