| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset hereditary spastic paraplegia v1.95 | FXN_GAA | Sarah Leigh commented on STR: FXN_GAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.83 | FXN_GAA | Arina Puzriakova Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.82 | FXN | Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.20 | FXN | Sarah Leigh Phenotypes for gene: FXN were changed from Friedreich ataxia, 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.151 | FXN_GAA | Louise Daugherty edited their review of STR: FXN_GAA: Added comment: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.150 | FXN | Louise Daugherty Classified gene: FXN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.150 | FXN | Louise Daugherty Gene: fxn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.149 | FXN |
Louise Daugherty gene: FXN was added gene: FXN was added to Hereditary spastic paraplegia - adult onset. Sources: Expert Review Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FXN were set to 8596916; 9150176; 9737785; 21830088 Phenotypes for gene: FXN were set to Friedreich ataxia, 229300 Review for gene: FXN was set to GREEN Added comment: New Green gene added and agreed from the GMS Neurology Specialist Test Group Webex on 17th May 2019. Single nucleotide variants can cause the disease (often compound het STR + SNV) Sources: Expert Review |
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| Adult onset hereditary spastic paraplegia v0.25 | FXN_GAA | Louise Daugherty edited their review of STR: FXN_GAA: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment str (Variants in this STR are reported as part of current diagnostic practice); Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.25 | FXN_GAA | Louise Daugherty Source NHS GMS was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.24 | FXN_GAA | Louise Daugherty Source South West GLH was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.23 | FXN_GAA | Louise Daugherty Source London North GLH was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.22 | FXN_GAA |
Louise Daugherty Source Expert Review Green was added to STR: FXN_GAA. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.18 | FXN_GAA |
Louise Daugherty STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300 Review for STR: FXN_GAA was set to GREEN Added comment: 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 Sources: Expert list |
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