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| Hereditary Neuropathy_CMT - isolated v1.67 | NAMPT | Zornitza Stark Marked gene: NAMPT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.67 | NAMPT | Zornitza Stark Gene: nampt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.67 | NAMPT |
Zornitza Stark gene: NAMPT was added gene: NAMPT was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: NAMPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAMPT were set to 41004591 Phenotypes for gene: NAMPT were set to hereditary motor and sensory neuropathy MONDO:0015358 Review for gene: NAMPT was set to RED Added comment: Two individuals from a single family reported with sensory and motor neuropathy with motor coordination impairment, muscle atrophy/weakness, foot/hand deformities, loss of sensation and positive Babinski sign Homozygous missense, c.472G>C (p.P158A), absent from gnomAD. Functional Studies: recombinant NAMPT protein activity assay; thermal shift stability assay; patient fibroblast bioenergetic, mitochondrial and oxidative stress assays; CRISPR‑generated isogenic fibroblasts; homozygous p.P158A mouse model showing metabolic, synaptic and motor neuron defects; rescue with NMN/P7C3 Sources: Literature |
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