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| Hereditary neuropathy or pain disorder v8.4 | LAS1L | Karen Stals reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35627110, PMID: 24647030; Phenotypes: SMARD-like, respiratory distress, apnoea, hypotonia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | LAS1L |
Ellen McDonagh gene: LAS1L was added gene: LAS1L was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review,Expert Review Red,South West GLH Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAS1L were set to 24647030 |
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