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| Common deletion and duplication syndromes v1.3 | ISCA-37397-Gain |
Sarah Milton GRCh38 position for ISCA-37397-Gain was changed from 21443089-23306926 to 21562828-22620608. Source Expert list was removed from Region: ISCA-37397-Gain. Source ClinGen was added to Region: ISCA-37397-Gain. |
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| Common deletion and duplication syndromes v1.0 | ISCA-37397-Gain | Region ISCA-37397-Gain migrated (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.19 | ISCA-37397-Gain | Zornitza Stark Marked Region: ISCA-37397-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.19 | ISCA-37397-Gain | Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.19 | ISCA-37397-Gain | Zornitza Stark Classified Region: ISCA-37397-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.19 | ISCA-37397-Gain | Zornitza Stark Region: isca-37397-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.18 | ISCA-37397-Gain |
Zornitza Stark Region: ISCA-37397-Gain was added Region: ISCA-37397-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37397-Gain. Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37397-Gain were set to 21671380; 31479204 Phenotypes for Region: ISCA-37397-Gain were set to Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal; intellectual disability; dysmorphic features; congenital anomalies Review for Region: ISCA-37397-Gain was set to GREEN Added comment: Well established recurrent CNV. Sources: Expert list |
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