Pulmonary Fibrosis_Interstitial Lung Disease
Gene: ASAH1
ASAH1 (N-acylsphingosine amidohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000
Sue White (Victorian Clinical Genetics Services)
Biallelic variants in the ASAH1 gene are associated with a spectrum of disorders ranging from Farber disease (FD) to spinal muscular atrophy with or without progressive myoclonic epilepsy (SMA‐PME). FD presents most commonly in infants with subcutaneous joint nodules, progressive arthritis and granulomas of the larynx and epiglottis leading to a hoarse cry. SMA‐PME is characterized by childhood onset progressive weakness due to motor neuron disease followed by progressive epilepsy, tremor, and sensorineural hearing loss.Created: 2 Nov 2020, 5:13 a.m. | Last Modified: 2 Nov 2020, 5:13 a.m.
Panel Version: 0.5257
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 613468
- Clinvar variants
- Variants in ASAH1
- Penetrance
- None
- Panels with this gene
-
- Motor Neurone Disease
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Fetal anomalies
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Hereditary Neuropathy - complex
- Mendeliome
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ASAH1 was added gene: ASAH1 was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASAH1 was set to Unknown