Growth failure in early childhood
Region: ISCA-37392-Loss7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) 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, 11:23 a.m. | Last Modified: 16 Mar 2022, 11:23 a.m.
Panel Version: 1.101
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, demoted this CNV from Green to Red because Clinical Indication R147 will be delivered by panel/exome.Created: 30 May 2019, 10:01 a.m.
Triplosensitivity Score for ISCA-37392-Loss was changed from to None. Phenotypes for Region: ISCA-37392-Loss were changed from 194050; Williams syndrome to Williams-Beuren syndrome, OMIM:194050
GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172. Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60.
Region: isca-37392-loss has been classified as Red List (Low Evidence).
Region: ISCA-37392-Loss was added Region: ISCA-37392-Loss was added to Growth failure in early childhood. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37392-Loss were set to 20301427 Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome