Severe early-onset obesity
Region: ISCA-37486-Loss16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) 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, 12:23 p.m. | Last Modified: 16 Mar 2022, 12:23 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-37486-Loss was changed from 28811313-29035181 to 28811314-29035178. Triplosensitivity Score for ISCA-37486-Loss was changed from None to . Required Overlap Percentage for ISCA-37486-Loss was changed from 80 to 60.
Triplosensitivity Score for ISCA-37486-Loss was changed from to None. Source Expert list was added to Region: ISCA-37486-Loss.
Region: ISCA-37486-Loss was added Region: ISCA-37486-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-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231 Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity