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| Common deletion and duplication syndromes v0.33 | ISCA-37404-Loss |
Zornitza Stark changed review comment from: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted. Sources: Expert list; to: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal allele is deleted. Sources: Expert list |
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| Common deletion and duplication syndromes v0.33 | ISCA-37404-Loss | Zornitza Stark edited their review of Region: ISCA-37404-Loss: Changed phenotypes: Angelman syndrome, MIM# 105830, Prader-Willi syndrome, MIM# 176270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.33 | ISCA-37404-Loss | Zornitza Stark Marked Region: ISCA-37404-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.33 | ISCA-37404-Loss | Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.33 | ISCA-37404-Loss | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37404-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.33 | ISCA-37404-Loss | Zornitza Stark Phenotypes for Region: ISCA-37404-Loss were changed from Angelman syndrome, MIM# 105830 to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.32 | ISCA-37404-Loss | Zornitza Stark Classified Region: ISCA-37404-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.32 | ISCA-37404-Loss | Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.31 | ISCA-37404-Loss |
Zornitza Stark Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 20301323; 20301505 Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830 Review for Region: ISCA-37404-Loss was set to GREEN Added comment: Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal alleles are deleted. Sources: Expert list |
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