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| Common deletion and duplication syndromes v0.96 | ISCA-37443-Loss | Zornitza Stark Marked Region: ISCA-37443-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.96 | ISCA-37443-Loss | Zornitza Stark Region: isca-37443-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.96 | ISCA-37443-Loss | Zornitza Stark Phenotypes for Region: ISCA-37443-Loss were changed from Chromosome 3q29 microdeletion syndrome MIM#609425 to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.95 | ISCA-37443-Loss | Zornitza Stark Classified Region: ISCA-37443-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.95 | ISCA-37443-Loss | Zornitza Stark Region: isca-37443-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.71 | ISCA-37443-Loss |
Elena Savva Region: ISCA-37443-Loss was added Region: ISCA-37443-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115 Phenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425 Review for Region: ISCA-37443-Loss was set to GREEN Added comment: Established CNV Patients have intellectual disabilities, a history of autism and psychiatric symptoms. The region of overlap encompasses 20 RefSeq genes, including FBX045, DLG1, and PAK2. Both familial and de novo reports Sources: Expert list |
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