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| Common deletion and duplication syndromes v0.155 | ISCA-46304-Gain | Zornitza Stark Marked Region: ISCA-46304-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.155 | ISCA-46304-Gain | Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.155 | ISCA-46304-Gain | Zornitza Stark Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.154 | ISCA-46304-Gain | Zornitza Stark Classified Region: ISCA-46304-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.154 | ISCA-46304-Gain | Zornitza Stark Region: isca-46304-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.151 | ISCA-46304-Gain |
Sarah Milton Region: ISCA-46304-Gain was added Region: ISCA-46304-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46304-Gain were set to PMID: 29141583, 22679399 Phenotypes for Region: ISCA-46304-Gain were set to Syndromic X-linked intellectual disability Lubs type, MONDO:0010283 Review for Region: ISCA-46304-Gain was set to GREEN Added comment: Known Clingen triplosensitive region containing MECP2 and IRAK1. Associated with intellectual disability, seizures, hypotonia, mild dysmorphism. Typically affects males but females may be mildly affected. Sources: ClinGen |
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