| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hydrops fetalis v0.155 | NPC2 |
Zornitza Stark changed review comment from: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease. Sources: Expert list; to: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. One identified for NPC2-associated disease. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.143 | NPC2 |
Zornitza Stark gene: NPC2 was added gene: NPC2 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM# 607625 Review for gene: NPC2 was set to RED Added comment: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.0 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPC1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||