Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.162 | FGF14_TTC |
Sarah Leigh commented on STR: FGF14_TTC: The name of this STR has been changed from FGF14_GAA to FGF14_TTC as FGF14 is transcribed from the reverse strand of the sequence. The coordinates for the repeated sequence have been updated to those shown in https://stripy.org/database/FGF14. Previously, the coordinates were for the whole gene, rather than the repeated sequence. |
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| Hereditary neuropathy or pain disorder v6.162 | FGF14_TTC | Sarah Leigh Tag NGS Not Validated tag was added to STR: FGF14_TTC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.162 | FGF14_TTC |
Sarah Leigh FGF14_GAA was changed to FGF14_TTC GRCh38 position for FGF14_TTC was changed from 101710804-102402443 to 102161576-102161726. Repeated Sequence for FGF14_TTC was changed from GAA to TTC. Source Literature was removed from STR: FGF14_TTC. |
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| Hereditary neuropathy or pain disorder v5.22 | FGF14_GAA | Sarah Leigh edited their review of STR: FGF14_GAA: Added comment: FGF14_GAA added to Hereditary neuropathy or pain disorder panel on the recommendation of Alex Rossor (UCL Institute of Neurology), who recommended its promotion to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.22 | FGF14_GAA | Sarah Leigh Classified STR: FGF14_GAA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.22 | FGF14_GAA | Sarah Leigh Added comment: Comment on list classification: FGF14_GAA is not currently reportable, as the coordinates are not present on the analysis pipeline. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.22 | FGF14_GAA | Sarah Leigh Str: fgf14_gaa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.21 | FGF14_GAA |
Sarah Leigh STR: FGF14_GAA was added STR: FGF14_GAA was added to Hereditary neuropathy or pain disorder. Sources: Expert Review Amber watchlist tags were added to STR: FGF14_GAA. Mode of inheritance for STR: FGF14_GAA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FGF14_GAA were set to 36516086; 36493768; 37267898 Phenotypes for STR: FGF14_GAA were set to Spinocerebellar ataxia 27B, late-onset, OMIM: 620174 Penetrance for STR: FGF14_GAA were set to Complete |
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| Hereditary neuropathy or pain disorder v0.1 | FGF14 |
Ellen McDonagh gene: FGF14 was added gene: FGF14 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: FGF14 was set to Phenotypes for gene: FGF14 were set to Hereditary Neuropathies |
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