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| Common deletion and duplication syndromes v0.87 | ISCA-37493-Loss | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37493-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.68 | ISCA-37493-Loss | Zornitza Stark Marked Region: ISCA-37493-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.68 | ISCA-37493-Loss | Zornitza Stark Region: isca-37493-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.68 | ISCA-37493-Loss | Zornitza Stark Phenotypes for Region: ISCA-37493-Loss were changed from 1q43q44 microdeletion syndrome to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.67 | ISCA-37493-Loss | Zornitza Stark Publications for Region: ISCA-37493-Loss were set to PMID: 28283832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.66 | ISCA-37493-Loss | Zornitza Stark Classified Region: ISCA-37493-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.66 | ISCA-37493-Loss | Zornitza Stark Region: isca-37493-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.65 | ISCA-37493-Loss | Zornitza Stark reviewed Region: ISCA-37493-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 31929334, 31830750, 30853971; Phenotypes: 1q43q44 microdeletion syndrome, intellectual disability, seizures, microcephaly, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.45 | ISCA-37493-Loss |
Elena Savva Region: ISCA-37493-Loss was added Region: ISCA-37493-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37493-Loss were set to PMID: 28283832 Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome Review for Region: ISCA-37493-Loss was set to GREEN Added comment: Established CNV AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance Sources: Expert list |
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