Fetal hydropsGene: UROS
PMID:12533808 (Pannier et al., 2003) present two cases of fetuses with severe nonimmune hydrops fetalis and congenital erythropoietic porphyria (CEP/Günther's disease). Molecular screening of the UROS (CEP) gene detected heterozygous C73R mutation in both fetuses, the other parental mutation being as yet unknown.
Created: 21 Dec 2016, 11:56 a.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.
UROS was created by rfoulger
UROS was added to Fetal hydropspanel. Sources: Literature