Fetal hydrops

Gene: ASAH1

Green List (high evidence)

ASAH1 (N-acylsphingosine amidohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

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.

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

21 Dec 2016, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

ASAH1 was added to Fetal hydropspanel. Sources: Literature, Expert Review Green

21 Dec 2016, Gel status: 0


Rebecca Foulger (Genomics England curator)

ASAH1 was created by rfoulger