Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Growth failure in early childhood v3.85 | ISCA-37392-Loss |
Arina Puzriakova 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37392-Loss | Arina Puzriakova commented on Region: ISCA-37392-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37392-Loss |
Arina Puzriakova 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.32 | ISCA-37392-Loss | Rebecca Foulger commented on Region: ISCA-37392-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.28 | ISCA-37392-Loss | Rebecca Foulger Classified Region: ISCA-37392-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.28 | ISCA-37392-Loss | Rebecca Foulger Region: isca-37392-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.1 | ISCA-37392-Loss |
Ellen McDonagh 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 |