Fetal hydropsGene: SLC17A5
PMID:10069709 (Lemyre et al., 1999) suggested that ISSD should enter the differential diagnosis of hydrops fetalis with storage disease phenotype. Hydrops fetalis was diagnosed in 2 fetuses with a diagnosis of sialic acid storage disorder. Confirmed DD gene for ISSD (OMIM:269920). >3 cases in OMIM of SLC17A5 mutations linked to ISSD (OMIM:269920).
Created: 21 Dec 2016, 11:42 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.
SLC17A5 was added to Fetal hydropspanel. Sources: Literature, Other, Expert Review Green
SLC17A5 was created by rfoulger