| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3371 | NAMPT | Bryony Thompson Marked gene: NAMPT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3371 | NAMPT | Bryony Thompson Gene: nampt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3371 | NAMPT |
Bryony Thompson gene: NAMPT was added gene: NAMPT was added to Mendeliome. 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: A single family reported. Disease Context: sensory and motor neuropathy with motor coordination impairment, muscle atrophy/weakness, foot/hand deformities, loss of sensation and positive Babinski sign Families: 1 family Patients: 2 Phenotype: impaired motor coordination, muscle atrophy/weakness, foot and hand deformities, diminished sensation, positive Babinski sign Mode of inheritance: Biallelic (autosomal recessive; parents heterozygous carriers, affected siblings homozygous). No mention of consanguinity Variants: c.472G>C (p.P158A) (missense) Population Frequency: gnomAD: 0 Segregation: parents heterozygous, both affected siblings homozygous (pedigree confirmed) 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 Prior Reports: none. Sources: Literature |
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