Fetal hydropsGene: SMPD1
Confirmed DD gene for NPA (OMIM:257200). >3 cases in OMIM of SMPD1 mutations linked to Niemann-Pick disease A. Although PMID:23137060 (Whybra et al., 2012) state that two reported cases of Niemann-Pick disease, type A (OMIM:257200) and NIHF (in PMID:15305357, Burin et al., 2004) may be the exception, many papers cite Niemann-Pick disease A as one of the lysosomal storage disorders associated with Fetal hydrops.
Created: 21 Dec 2016, 11:44 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.
SMPD1 was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing
SMPD1 was created by rfoulger
SMPD1 was added to Fetal hydropspanel. Sources: Literature, Expert Review Green