Fetal hydropsGene: GALNS
Added to panel because of link between some lysosomal storage disorders and non-immune fetal hydrops (NIHF). PMID:23137060 (Whybra et al., 2012) report a first child of non-consanguineous parents presented with hydrops fetalis at 22 weeks of gestation. A diagnosis of MPS IVA was given, and mutation analysis revealed GALNS c.463 G → A in Exon 5 and Intron 13 (IVS13-1 G → A).
Created: 21 Dec 2016, 11:36 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.
GALNS was added to Fetal hydropspanel. Sources: Expert Review Green
GALNS was created by rfoulger