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Common deletion and duplication syndromes v0.16 | ISCA-37396-Loss | Zornitza Stark Marked Region: ISCA-37396-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.16 | ISCA-37396-Loss | Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.16 | ISCA-37396-Loss | Zornitza Stark Classified Region: ISCA-37396-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.16 | ISCA-37396-Loss | Zornitza Stark Region: isca-37396-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.15 | ISCA-37396-Loss | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37396-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common deletion and duplication syndromes v0.15 | ISCA-37396-Loss |
Zornitza Stark Region: ISCA-37396-Loss was added Region: ISCA-37396-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776 Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive Review for Region: ISCA-37396-Loss was set to GREEN Added comment: Well established recurrent CNV. Sources: Expert list |