Disorders of sex developmentRegion: ISCA-37401-Loss
11p13 (WAGR syndrome) region Loss
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 12:26 p.m. | Last Modified: 16 Mar 2022, 12:26 p.m.
Panel Version: 2.59
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this CNV green.
Created: 29 Apr 2019, 9:48 a.m.
Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Disorders of sex development. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072