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| Common deletion and duplication syndromes v0.53 | ISCA-46295-Loss | Zornitza Stark Marked Region: ISCA-46295-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.53 | ISCA-46295-Loss | Zornitza Stark Region: isca-46295-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.53 | ISCA-46295-Loss | Zornitza Stark Phenotypes for Region: ISCA-46295-Loss were changed from Chromosome 15q13.3 microdeletion syndrome MIM#612001 to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.52 | ISCA-46295-Loss | Zornitza Stark Mode of inheritance for Region: ISCA-46295-Loss was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.51 | ISCA-46295-Loss | Zornitza Stark Classified Region: ISCA-46295-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.51 | ISCA-46295-Loss | Zornitza Stark Region: isca-46295-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.50 | ISCA-46295-Loss | Zornitza Stark reviewed Region: ISCA-46295-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 15q13.3 microdeletion syndrome MIM#612001, intellectual disability, seizures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-46295-Loss |
Elena Savva Region: ISCA-46295-Loss was added Region: ISCA-46295-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-46295-Loss were set to PMID: 19289393 Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001 Review for Region: ISCA-46295-Loss was set to GREEN Added comment: Well established CNV PMID: 19289393: incomplete penetrance well reported for autism, mental retardation, and psychiatric disorders Specific genes implicated in the phenotype include CHRNA7 (118511) and OTUD7A (612024) Sources: Expert list |
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