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Adult onset neurodegenerative disorder v4.28 ATXN7_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 ATXN7_CAG Sarah Leigh Tag Q3_23_promote_green was removed from STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v4.28 ATXN7_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v4.28 ATXN7_CAG Sarah Leigh changed review comment from: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; to: It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 ATXN7_CAG Sarah Leigh reviewed STR: ATXN7_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.273 ATXN7_CAG Eleanor Williams Tag for-review was removed from STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v2.267 ATXN7_CAG Eleanor Williams commented on STR: ATXN7_CAG
Adult onset neurodegenerative disorder v2.264 ATXN7_CAG Arina Puzriakova Normal Number of Repeats for ATXN7_CAG was changed from 34 to 28.
Pathogenic Number of Repeats for ATXN7_CAG was changed from 36 to 37.
Adult onset neurodegenerative disorder v2.217 ATXN7_CAG Arina Puzriakova Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7 164500 to Spinocerebellar ataxia 7, OMIM:164500
Adult onset neurodegenerative disorder v2.216 ATXN7_CAG Arina Puzriakova Tag watchlist tag was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v2.25 ATXN7_CAG Arina Puzriakova Classified STR: ATXN7_CAG as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v2.25 ATXN7_CAG Arina Puzriakova Added comment: Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Adult onset neurodegenerative disorder v2.25 ATXN7_CAG Arina Puzriakova Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v2.24 ATXN7_CAG Arina Puzriakova Tag for-review tag was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.75 ATXN7_CAG Louise Daugherty edited their review of STR: ATXN7_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 ATXN7_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.59 ATXN7_CAG Louise Daugherty commented on STR: ATXN7_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN7_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN7_CAG Louise Daugherty Source South West GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN7_CAG Louise Daugherty Source London North GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.49 ATXN7 Louise Daugherty changed review comment from: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Neurodegenerative disorders - adult onset panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, as there are no SNVsfor this gene being associated to the disorder, this gene is rated RED.; to: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Hereditary ataxia panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, but this needs to be checked during the Neurology test Group call July 2019
Adult onset neurodegenerative disorder v1.49 ATXN7 Louise Daugherty commented on gene: ATXN7: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Neurodegenerative disorders - adult onset panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, as there are no SNVsfor this gene being associated to the disorder, this gene is rated RED.
Adult onset neurodegenerative disorder v0.58 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.58 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.57 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148.
Sources: Expert list