Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.156 | FMR1_CGG |
Sarah Leigh Tag Q3_24_promote_green was removed from STR: FMR1_CGG. Tag Q3_24_NHS_review was removed from STR: FMR1_CGG. |
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| Hereditary neuropathy or pain disorder v6.156 | FMR1_CGG | Sarah Leigh Classified STR: FMR1_CGG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.156 | FMR1_CGG | Sarah Leigh Str: fmr1_cgg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.155 | FMR1_CGG | Sarah Leigh commented on STR: FMR1_CGG: The rating of this STR has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.22 | FMR1_CGG | Sarah Leigh changed review comment from: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology).; to: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.20 | FMR1_CGG |
Sarah Leigh Tag Q3_24_promote_green tag was added to STR: FMR1_CGG. Tag Q3_24_NHS_review tag was added to STR: FMR1_CGG. |
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| Hereditary neuropathy or pain disorder v5.20 | FMR1_CGG | Sarah Leigh edited their review of STR: FMR1_CGG: Added comment: FMR1_CGG added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.20 | FMR1_CGG | Sarah Leigh Entity copied from Hereditary neuropathy v1.489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.20 | FMR1_CGG |
Sarah Leigh STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review STR tags were added to STR: FMR1_CGG. Mode of inheritance for STR: FMR1_CGG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for STR: FMR1_CGG were set to 26212380 Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623 |
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