Severe early-onset obesityRegion: ISCA-37478-Loss
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 12:22 p.m. | Last Modified: 16 Mar 2022, 12:22 p.m.
Panel Version: 2.49
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
GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728. Triplosensitivity Score for ISCA-37478-Loss was changed from None to . Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Triplosensitivity Score for ISCA-37478-Loss was changed from to None. Source Expert list was added to Region: ISCA-37478-Loss.
Region: ISCA-37478-Loss was added Region: ISCA-37478-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-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830