| 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 v0.155 | NPC2 | Zornitza Stark edited their review of gene: NPC2: Changed publications: 29928259; Changed phenotypes: Niemann-pick disease, type C2, MIM# 607625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.143 | NPC2 | Zornitza Stark Marked gene: NPC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.143 | NPC2 | Zornitza Stark Gene: npc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||