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| Hereditary ataxia with onset in adulthood v2.147 | ATXN7_CAG | Eleanor Williams commented on STR: ATXN7_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.145 | ATXN7_CAG |
Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28. Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37. |
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| Hereditary ataxia with onset in adulthood v2.105 | ATXN7_CAG | Arina Puzriakova Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.194 | ATXN7_CAG | Louise Daugherty commented on STR: ATXN7_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.178 | ATXN7_CAG | Louise Daugherty Source London North GLH was added to STR: ATXN7_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.177 | ATXN7_CAG | Louise Daugherty changed review comment from: 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; to: Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.177 | ATXN7_CAG | Louise Daugherty Source NHS GMS was added to STR: ATXN7_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.176 | ATXN7_CAG | Louise Daugherty Source Wessex and West Midlands GLH was added to STR: ATXN7_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.14 | ATXN7_CAG | Louise Daugherty commented on STR: ATXN7_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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.19 | ATXN7_CAG | Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.19 | ATXN7_CAG | Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.18 | ATXN7_CAG |
Louise Daugherty STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500 Review for STR: ATXN7_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia 1.148 Sources: Expert list |
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