Fetal hydropsGene: NPC1
PMID:23137060 (Whybra et al., 2012) report a male fetus presented with intrauterine ascites at 30 weeks of gestation and mutations in the NPC1 Gene. Confirmed DD gene for Niemann-Pick disease, type C1 (OMIM:257220). >3 cases of NPC1 mutations linked to NPC in OMIM.
Created: 21 Dec 2016, 11:45 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.
NPC1 was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing
Publications for NPC1 were set to 23137060; 2375336; 2589877; 2334227; 23597521
NPC1 was added to Fetal hydropspanel. Sources: Literature, Expert Review Green
NPC1 was created by rfoulger