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| Hereditary Neuropathy - complex v0.274 | ASAH1 |
Sangavi Sivagnanasundram edited their review of gene: ASAH1: Added comment: 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.; Changed rating: GREEN; Changed publications: 27026573, 22703880; Changed phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950) |
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| Hereditary Neuropathy - complex v0.265 | ASAH1 | Sangavi Sivagnanasundram reviewed gene: ASAH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis (MIM#228000), Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | ASAH1 |
Bryony Thompson 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 |
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