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Hereditary Neuropathy - complex

Gene: ASAH1

Green List (high evidence)
ASAH1 (N-acylsphingosine amidohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID:27026573
Siblings from a consanguineous family with SMA phenotype and a homozygous mutation in ASAH1.

PMID: 22703880
5 individuals from 2 unrelated families with SMA and a homozygous mutation (Thr42Met) in ASAH1.

In vivo functional assay using Zebrafish model showed a loss in motor neuron axonal branching and increased apotheosis in the spinal cord suggesting that ASAH plays an integral role in motor-axonal branching and in the survival of spinal cord neurons.
Created: 14 Aug 2023, 11:13 p.m. | Last Modified: 14 Aug 2023, 11:13 p.m.
Panel Version: 0.274
Neuropathy is not a prominent feature of these conditions.
Created: 10 Aug 2023, 10:57 p.m. | Last Modified: 10 Aug 2023, 10:57 p.m.
Panel Version: 0.265

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950)

Publications

Created: 10 Aug 2023, 10:57 p.m.
Last Modified: 10 Aug 2023, 10:57 p.m.
Panel version: 0.274

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy
  • dHMN/dSMA
OMIM
613468
Clinvar variants
Variants in ASAH1
Penetrance
None
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ASAH1 was added gene: ASAH1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy; dHMN/dSMA