| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset neurodegenerative disorder v2.154 | EWSR1 | Ivone Leong Phenotypes for gene: EWSR1 were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.106 | EWSR1 | Louise Daugherty commented on gene: EWSR1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | EWSR1 | Louise Daugherty reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | EWSR1 | Nick Beauchamp reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22454397, 29170628; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.70 | EWSR1 |
Louise Daugherty Mode of inheritance for gene EWSR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis for gene: EWSR1 Publications for gene EWSR1 were changed from to 29170628; 22454397 |
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| Adult onset neurodegenerative disorder v1.66 | EWSR1 | Louise Daugherty Source NHS GMS was added to EWSR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.65 | EWSR1 | Louise Daugherty Source Yorkshire and North East GLH was added to EWSR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.64 | EWSR1 |
Louise Daugherty gene: EWSR1 was added gene: EWSR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: EWSR1 was set to |
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