Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1497 | PKD1L1 | Zornitza Stark Tag for review tag was added to gene: PKD1L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1460 | PKD1L1 |
Lilian Downie gene: PKD1L1 was added gene: PKD1L1 was added to Prepair 1000+. Sources: Expert list Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKD1L1 were set to PMID: 33655537; PMID: 27616478 Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal MIM#617205 Review for gene: PKD1L1 was set to AMBER Added comment: Variable penetrance but can cause major organ malformation, particularly cardiac, intestinal malformation, ciliary dyskinesia, hydrops. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||