Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Region: ISCA-37425-Loss5q35 recurrent (Sotos syndrome) region (includes NSD1) 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, 1:04 p.m. | Last Modified: 16 Mar 2022, 1:04 p.m.
Panel Version: 1.116
GRCh38 position for ISCA-37425-Loss was changed from 176301975-177586960 to 176301976-177620792. Triplosensitivity Score for ISCA-37425-Loss was changed from to None. Required Overlap Percentage for ISCA-37425-Loss was changed from 80 to 60.
Region: ISCA-37425-Loss was added Region: ISCA-37425-Loss was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw