Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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