Common deletion and duplication syndromes
Region: ISCA-37404-LossAngelman and Prader-Willi syndromes
Well established recurrent CNV. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal allele is deleted.
Sources: Expert listCreated: 30 Nov 2020, 7:29 a.m. | Last Modified: 30 Nov 2020, 7:30 a.m.
Panel Version: 0.33
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Publications
Region: isca-37404-loss has been classified as Green List (High Evidence).
Tag SV/CNV tag was added to Region: ISCA-37404-Loss.
Phenotypes for Region: ISCA-37404-Loss were changed from Angelman syndrome, MIM# 105830 to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Region: isca-37404-loss has been classified as Green List (High Evidence).
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