Hereditary Neuropathy - complex
Gene: ASAH1
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
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