Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Amyotrophic lateral sclerosis/motor neuron disease v1.64 | NEK1 | Sarah Leigh Phenotypes for gene: NEK1 were changed from Amyotrophic lateral sclerosis, susceptibility to, 24 to Amyotrophic lateral sclerosis, susceptibility to, 24, OMIM:617892; amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.63 | NEK1 | Sarah Leigh reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.63 | NEK1 | Sarah Leigh Classified gene: NEK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.63 | NEK1 | Sarah Leigh Gene: nek1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Amyotrophic lateral sclerosis/motor neuron disease v1.62 | NEK1 |
Andrey Gagunashvili gene: NEK1 was added gene: NEK1 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature,Research,ClinGen Mode of inheritance for gene: NEK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEK1 were set to 26945885; 27455347 Phenotypes for gene: NEK1 were set to Amyotrophic lateral sclerosis, susceptibility to, 24 Penetrance for gene: NEK1 were set to unknown Added comment: Definitive ALS gene according to both ALSoD (https://alsod.ac.uk) and ClinGen. Sources: Literature, Research, ClinGen |