Activity
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10 actions
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| Adult onset hereditary spastic paraplegia v1.95 | PPP2R2B_CAG | Arina Puzriakova commented on STR: PPP2R2B_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.91 | PPP2R2B_CAG |
Arina Puzriakova Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43. |
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| Adult onset hereditary spastic paraplegia v1.82 | PPP2R2B_CAG | Arina Puzriakova Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.151 | PPP2R2B_CAG | Louise Daugherty edited their review of STR: PPP2R2B_CAG: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.25 | PPP2R2B_CAG | Louise Daugherty edited their review of STR: PPP2R2B_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.25 | PPP2R2B_CAG | Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.24 | PPP2R2B_CAG | Louise Daugherty Source South West GLH was added to STR: PPP2R2B_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.23 | PPP2R2B_CAG | Louise Daugherty Source London North GLH was added to STR: PPP2R2B_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.22 | PPP2R2B_CAG |
Louise Daugherty Source Expert Review Green was added to STR: PPP2R2B_CAG. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.20 | PPP2R2B_CAG |
Louise Daugherty STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list STR tags were added to STR: PPP2R2B_CAG. Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group Sources: Expert list |
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