Activity
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| COVID-19 research v1.147 | ISCA-37433-Loss | Arina Puzriakova Classified Region: ISCA-37433-Loss as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.147 | ISCA-37433-Loss |
Arina Puzriakova Added comment: Comment on list classification: This region has been deprecated by ClinGen and therefore has been removed from the panel. This region has also been removed from all GMS panels following NHS Genomic Medicine Service approval. |
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| COVID-19 research v1.147 | ISCA-37433-Loss | Arina Puzriakova Region: isca-37433-loss has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.146 | ISCA-37433-Loss | Arina Puzriakova Tag curated_removed tag was added to Region: ISCA-37433-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.116 | ISCA-37433-Loss | Arina Puzriakova commented on Region: ISCA-37433-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| COVID-19 research v1.116 | ISCA-37433-Loss |
Arina Puzriakova GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685. Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60. |
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| COVID-19 research v0.36 | ISCA-37433-Loss |
Ellen McDonagh Region: ISCA-37433-Loss was added Region: ISCA-37433-Loss was added to Viral susceptibility. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37433-Loss were set to 20301696; 15889418; 15545748 Phenotypes for Region: ISCA-37433-Loss were set to diaphragmatic hernia; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; 192430; 188400; 22q11.2 deletion syndrome; renal anomalies; cleft palate, polydactyly; congenital heart disease; Learning difficulties; Velocardiofacial syndrome; polyhydramnios; DiGeorge syndrome; immune deficiency |
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