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| Childhood onset hereditary spastic paraplegia v2.130 | PPP2R2B_CAG | Arina Puzriakova commented on STR: PPP2R2B_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.126 | 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. Source NHS GMS was added to STR: PPP2R2B_CAG. |
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| Childhood onset hereditary spastic paraplegia v2.96 | PPP2R2B_CAG | Arina Puzriakova Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.177 | PPP2R2B_CAG | Louise Daugherty edited their review of STR: PPP2R2B_CAG: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.176 | PPP2R2B_CAG | Louise Daugherty Classified STR: PPP2R2B_CAG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.176 | PPP2R2B_CAG | Louise Daugherty Added comment: Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.176 | PPP2R2B_CAG | Louise Daugherty Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.6 | PPP2R2B_CAG | Louise Daugherty commented on STR: PPP2R2B_CAG: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.27 | PPP2R2B_CAG | Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.27 | PPP2R2B_CAG | Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.26 | PPP2R2B_CAG |
Louise Daugherty STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - childhood 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: Source PanelApp panels : Hereditary spastic paraplegia Version 1.141 Sources: Expert list |
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