Activity
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8 actions
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| Adult onset neurodegenerative disorder v2.163 | PRPH | Ivone Leong Phenotypes for gene: PRPH were changed from 170710; Amyotrophic lateral sclerosis, susceptibility to to {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.106 | PRPH | Louise Daugherty commented on gene: PRPH: 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 | PRPH | Louise Daugherty reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | PRPH | Nick Beauchamp reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: 15446584, 25299611, 15322088; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 170710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.70 | PRPH |
Louise Daugherty Mode of inheritance for gene PRPH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 170710; Amyotrophic lateral sclerosis, susceptibility to for gene: PRPH Publications for gene PRPH were changed from to 25299611; 15446584; 15322088 |
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| Adult onset neurodegenerative disorder v1.66 | PRPH | Louise Daugherty Source NHS GMS was added to PRPH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.65 | PRPH | Louise Daugherty Source Yorkshire and North East GLH was added to PRPH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.64 | PRPH |
Louise Daugherty gene: PRPH was added gene: PRPH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: PRPH was set to |
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