Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.150 | FXN_GAA |
Sarah Leigh Tag Q3_24_promote_green was removed from STR: FXN_GAA. Tag Q3_24_NHS_review was removed from STR: FXN_GAA. |
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| Hereditary neuropathy or pain disorder v6.150 | FXN_GAA | Sarah Leigh Classified STR: FXN_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.150 | FXN_GAA | Sarah Leigh Str: fxn_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.149 | FXN_GAA | Sarah Leigh commented on STR: FXN_GAA: The rating of this STR has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval (added as per previous conversations with James Polke). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.145 | FXN_GAA | Sarah Leigh Tag STR tag was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.145 | FXN_GAA |
Sarah Leigh Tag Q3_24_promote_green tag was added to STR: FXN_GAA. Tag Q3_24_NHS_review tag was added to STR: FXN_GAA. |
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| Hereditary neuropathy or pain disorder v6.145 | FXN_GAA | Sarah Leigh Classified STR: FXN_GAA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.145 | FXN_GAA | Sarah Leigh Str: fxn_gaa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.144 | FXN_GAA |
Sarah Leigh STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia, OMIM:229300; Friedreich ataxia 1, MONDO:0100340 Review for STR: FXN_GAA was set to GREEN Added comment: This STR has been added to Hereditary neuropathy or pain disorder panel, on the recommendation of James Polke (Rare & Inherited Disease Genomic Laboratory, NHS North Thames GLH). Biallelic (including compound heterozygous) FXN variants, both single nucleotide and repeat expansions, have been associated with Friedreich ataxia, OMIM:229300. The STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service. Sources: NHS GMS |
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