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| Common deletion and duplication syndromes v1.0 | ISCA-37448-Loss | Region ISCA-37448-Loss: gene migrated from ENSG00000170113 to ENSG00000170113 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.138 | ISCA-37448-Loss |
Sarah Milton Region: ISCA-37448-Loss was added Region: ISCA-37448-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-37448-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37448-Loss were set to Chromosome 15q11.2 deletion syndrome, MIM#615656 Penetrance for Region: ISCA-37448-Loss were set to Incomplete Review for Region: ISCA-37448-Loss was set to GREEN Added comment: Established recurrent CNV with neuropsychiatric and neurodevelopmental phenotypes. Known to have significantly reduced penetrance. Sources: ClinGen |
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