| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Motor Neurone Disease v0.194 | HNRNPA2B1 | Bryony Thompson changed review comment from: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, with includes ALS in the spectrum of phenotypes; to: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.194 | HNRNPA2B1 | Bryony Thompson Added comment: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.194 | HNRNPA2B1 | Bryony Thompson Added comment: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, with includes ALS in the spectrum of phenotypes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.24 | GNE |
Bryony Thompson gene: GNE was added gene: GNE was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNE were set to 29086072 Phenotypes for gene: GNE were set to Amyotrophic lateral sclerosis Review for gene: GNE was set to RED Added comment: Single family reported with ALS Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||