Activity
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8 actions
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| Hereditary neuropathy or pain disorder v6.155 | ATXN7_CAG | Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.155 | ATXN7_CAG | Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.154 | ATXN7_CAG |
Sarah Leigh Tag Q3_24_promote_green was removed from STR: ATXN7_CAG. Tag Q3_24_NHS_review was removed from STR: ATXN7_CAG. |
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| Hereditary neuropathy or pain disorder v6.154 | ATXN7_CAG | Sarah Leigh commented on STR: ATXN7_CAG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.37 | ATXN7_CAG | Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Ataxia neuropathy syndromes to Spinocerebellar ataxia 7, OMIM:164500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.36 | ATXN7_CAG | Sarah Leigh Classified STR: ATXN7_CAG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.36 | ATXN7_CAG | Sarah Leigh Str: atxn7_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.35 | ATXN7_CAG |
Sarah Leigh STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Q3_24_promote_green, Q3_24_NHS_review, 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 Ataxia neuropathy syndromes Review for STR: ATXN7_CAG was set to GREEN Added comment: ATXN7_CAG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green. Sources: NHS GMS |
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