Fetal hydropsGene: ASAH1
PMID:9128814 (Kattner et al., 1996) reported a severe case of Farber lipogranulomatosis presenting as nonimmune hydrops fetalis (NIHF). PMID:23707712 (Alves et al., 2013) identified compound heterozygous mutations in the ASAH1 gene in this patient. >3 cases of ASAH1 variants in OMIM linked to Farber disease, and literature (e.g. PMID:23137060) list Farber disease as one of the lysosomal storage disorders linked to NIHF.
Created: 21 Dec 2016, 11:48 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.
ASAH1 was added to Fetal hydropspanel. Sources: Literature, Expert Review Green
ASAH1 was created by rfoulger