Fetal hydropsGene: LIPA
LIPA is on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre:http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdf, and Wolman disease is reported in the literature as one of the lysosomal storage disorders with a link to NIHF (non-immune fetal hydrops). >3 reports in OMIM of LIPA mutations contributing to Wolman disease.
Created: 21 Dec 2016, 11:47 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.
LIPA was created by rfoulger
LIPA was added to Fetal hydropspanel. Sources: Literature, Other, Expert Review Green