Fetal hydropsGene: PSAT1
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.
Created: 7 May 2020, 3:57 p.m. | Last Modified: 7 May 2020, 3:57 p.m.
Panel Version: 1.22
Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports.
Sources: Expert list
Created: 30 Dec 2019, 7:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neu-Laxova syndrome 2, MIM# 616038
Variants in this GENE are reported as part of current diagnostic practice
Gene: psat1 has been classified as Red List (Low Evidence).
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