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| Adult onset hereditary spastic paraplegia v1.95 | ATXN1_CAG | Ivone Leong commented on STR: ATXN1_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.91 | ATXN1_CAG |
Arina Puzriakova Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. |
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| Adult onset hereditary spastic paraplegia v1.79 | ATXN1_CAG | Arina Puzriakova Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.151 | ATXN1_CAG | Louise Daugherty edited their review of STR: ATXN1_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 | ATXN1_CAG | Louise Daugherty edited their review of STR: ATXN1_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 | ATXN1_CAG | Louise Daugherty Source NHS GMS was added to STR: ATXN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.24 | ATXN1_CAG | Louise Daugherty Source South West GLH was added to STR: ATXN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.23 | ATXN1_CAG |
Louise Daugherty Source London North GLH was added to STR: ATXN1_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.11 | ATXN1_CAG | Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.11 | ATXN1_CAG | Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.10 | ATXN1_CAG |
Louise Daugherty STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_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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