Severe early-onset obesityRegion: ISCA-37404-Loss
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
Review on behalf of Ismaa Farooqi (University of Cambridge): Rating: green. Do you report variants in this gene as part of your current diagnostic practice? Yes.
Created: 15 Aug 2019, 2:21 p.m. | Last Modified: 15 Aug 2019, 2:21 p.m.
Panel Version: 1.22
Variants in this REGION are reported as part of current diagnostic practice
Triplosensitivity Score for ISCA-37404-Loss was changed from to None. Source Expert list was added to Region: ISCA-37404-Loss.
Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green 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 22045295; 7611294 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105835