Fetal hydrops
Gene: ASAH1EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- disseminated lipogranulomatosis (Farber disease)
- NIHF
- nonimmune hydrops fetalis
- OMIM
- 613468
- Clinvar variants
- Variants in ASAH1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Fetal hydrops
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- DDG2P
- Familial pulmonary fibrosis
History Filter Activity
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.
Added New Source
Rebecca Foulger (Genomics England curator)ASAH1 was added to Fetal hydropspanel. Sources: Literature, Expert Review Green
Created
Rebecca Foulger (Genomics England curator)ASAH1 was created by rfoulger