| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Motor Neurone Disease v0.193 | EWSR1 | Bryony Thompson Marked gene: EWSR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.193 | EWSR1 | Bryony Thompson Gene: ewsr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.178 | EWSR1 | Bryony Thompson Classified gene: EWSR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.178 | EWSR1 | Bryony Thompson Added comment: Comment on list classification: Disputed gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 11/10/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.178 | EWSR1 | Bryony Thompson Gene: ewsr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.20 | EWSR1 | Bryony Thompson Classified gene: EWSR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.20 | EWSR1 | Bryony Thompson Gene: ewsr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.19 | EWSR1 |
Bryony Thompson gene: EWSR1 was added gene: EWSR1 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: EWSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EWSR1 were set to 29731676; 22454397 Phenotypes for gene: EWSR1 were set to Amyotrophic lateral sclerosis Review for gene: EWSR1 was set to AMBER Added comment: Mouse model and 2 missense reported in 2 ALS cases, but no other reports in ALS cases since 2012 Sources: Expert list |
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