Activity
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| Adult onset neurodegenerative disorder v1.106 | NT5C2 | Louise Daugherty edited their review of gene: NT5C2: Added comment: 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 Red; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.105 | NT5C2 |
Louise Daugherty Source Expert Review Red was added to NT5C2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Adult onset neurodegenerative disorder v1.74 | NT5C2 | Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | NT5C2 | Nick Beauchamp reviewed gene: NT5C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.69 | NT5C2 | Louise Daugherty Source NHS GMS was added to NT5C2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | NT5C2 | Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.3 | NT5C2 | Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.3 | NT5C2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. 'Hereditary spastic paraplegia' is a component panel of 'Neurodegenerative disorders - adult onset'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.3 | NT5C2 | Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.2 | NT5C2 | Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | NT5C2 |
Rebecca Foulger gene: NT5C2 was added gene: NT5C2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5C2 were set to 28884889; 24482476; 29123918; 28327087 Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162 |
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