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| Hereditary Neuropathy_CMT - isolated v0.51 | LAS1L | Zornitza Stark Marked gene: LAS1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.51 | LAS1L | Zornitza Stark Gene: las1l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v0.51 | LAS1L |
Zornitza Stark gene: LAS1L was added gene: LAS1L was added to Hereditary Neuropathy_CMT - isolated. Sources: Expert Review Mode of inheritance for gene: LAS1L was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: LAS1L were set to 24647030 Phenotypes for gene: LAS1L were set to congenital lethal motor neuron disease Review for gene: LAS1L was set to RED Added comment: Variants in this gene are generally associated with XL intellectual disability (Wilson-Turner syndrome, MIM# 309585). Single case report of congenital lethal motor neuron disease (SMARD) identified with supportive zebrafish model. Unclear whether this is a distinct phenotype/mechanism at present, await further reports. Sources: Expert Review |
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