Activity
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11 actions
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| Hereditary neuropathy or pain disorder v6.148 | BAG3 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: BAG3. Tag Q3_24_NHS_review was removed from gene: BAG3. |
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| Hereditary neuropathy or pain disorder v6.148 | BAG3 | Sarah Leigh commented on gene: BAG3: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | BAG3 |
Sarah Leigh Source Expert Review Green was added to BAG3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.22 | BAG3 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: BAG3. Tag Q3_24_NHS_review tag was added to gene: BAG3. |
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| Hereditary neuropathy or pain disorder v6.20 | BAG3 | Sarah Leigh reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: ; Publications: 37989284, 30145633, 37907725, 25208129; Phenotypes: Myopathy, myofibrillar, 6, OMIM:612954, myofibrillar myopathy 6, MONDO:0013061, dilated cardiomyopathy 1HH, MONDO:0013479, Cardiomyopathy, dilated, 1HH, OMIM:613881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | BAG3 | Alexander Rossor edited their review of gene: BAG3: Added comment: Further reports in assocation with PN since my last review, should now be green; Changed publications to: 30145633: 37989284: 37907725; Changed phenotypes to: cardiomyopathy, polyneuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.31 | BAG3 | Louise Daugherty commented on gene: BAG3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - myopathy with neuropathy / Broader phenotype - not reviewed by Alex in this round but previously reviewed as Green; myofibrillar myopathy, sufficient evidence for neuropathy? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.31 | BAG3 | Louise Daugherty Classified gene: BAG3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.31 | BAG3 | Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.31 | BAG3 | Louise Daugherty Gene: bag3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v0.1 | BAG3 |
Ellen McDonagh gene: BAG3 was added gene: BAG3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Emory Genetics Laboratory,UKGTN,Expert Review Red,South West GLH Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BAG3 were set to 22734908; 28754666 Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881 |
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