Fetal hydropsGene: PEX3
Comment on list classification: Updated rating from red to green based on PMID:20033294 which suggests that peroxisomal disorders should be considered in the etiology of hydrops fetalis.
Created: 21 Dec 2016, 1:46 p.m.
PMID:20033294 (Dursun et al., 2009) report a Turkish patient who presented with symptoms including NIHF. Genetic analysis revealed a homozygous c.856C>T mutation (R268X) in the PEX3 gene, which made this patient the third to have a defect in this gene. This case raises a possibility that hydrops fetalis may be associated with a PEX3 gene defect and that peroxisomal disorders can be considered in the etiology of hydrops fetalis. PEX3 is on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdf.
Created: 21 Dec 2016, 1:44 p.m.
21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
This gene has been classified as Green List (High Evidence).
PEX3 was added to Fetal hydropspanel. Sources: Other
PEX3 was created by rfoulger