| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal hydrops v1.22 | PSAT1 | Rebecca Foulger Classified gene: PSAT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.22 | PSAT1 | Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Amber by Zornitza Stark. Fetal cases in Neu-Laxova syndrome (MIM:616038) in PMID:25152457 and 31903955 but not necessarily hydrops. Therefore rated Red awaiting further cases with hydrops. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.22 | PSAT1 | Rebecca Foulger Gene: psat1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | PSAT1 |
Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to Fetal hydrops. 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 AMBER gene: PSAT1 was marked as current diagnostic Added comment: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports. Sources: Expert list |
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