| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hydrops fetalis v0.32 | PSAT1 | Zornitza Stark Marked gene: PSAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.32 | PSAT1 | Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.32 | PSAT1 | Zornitza Stark Classified gene: PSAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.32 | PSAT1 | Zornitza Stark Added comment: Comment on list classification: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.32 | PSAT1 | Zornitza Stark Gene: psat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.31 | PSAT1 |
Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 30838783; 27475004 Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038 Review for gene: PSAT1 was set to GREEN Added comment: Hydrops can be a presenting feature. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||