| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v0.54 | NEK1 | Bryony Thompson Marked gene: NEK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.54 | NEK1 | Bryony Thompson Gene: nek1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.54 | NEK1 | Bryony Thompson Classified gene: NEK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.54 | NEK1 | Bryony Thompson Gene: nek1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.53 | NEK1 |
Bryony Thompson gene: NEK1 was added gene: NEK1 was added to Motor Neuron Disease. Sources: Literature Mode of inheritance for gene: NEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEK1 were set to 31768050; 26945885; 27455347; 29929116 Phenotypes for gene: NEK1 were set to Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892 Review for gene: NEK1 was set to GREEN Added comment: Exome-wide significant burden of heterozygous loss-of-function identified in ALS case-control studies that is replicated in both familial and simplex cohorts. Segregation of a PTV reported in 2 affected first-degree relatives in a single family. A loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons. Sources: Literature |
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