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Adult onset neurodegenerative disorder v4.32 | ATN1_CAG | Eleanor Williams commented on STR: ATN1_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v4.32 | ATN1_CAG | Eleanor Williams Classified STR: ATN1_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v4.32 | ATN1_CAG | Eleanor Williams Str: atn1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v4.31 | ATN1_CAG |
Eleanor Williams Tag watchlist was removed from STR: ATN1_CAG. Tag Q3_23_promote_green was removed from STR: ATN1_CAG. |
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Adult onset neurodegenerative disorder v4.28 | ATN1_CAG | Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v4.28 | ATN1_CAG | Sarah Leigh reviewed STR: ATN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.267 | ATN1_CAG | Ivone Leong commented on STR: ATN1_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.264 | ATN1_CAG | Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.204 | ATN1_CAG | Arina Puzriakova Tag watchlist tag was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.204 | ATN1_CAG | Arina Puzriakova Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.38 | ATN1_CAG | Arina Puzriakova Tag for-review was removed from STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.38 | ATN1_CAG | Arina Puzriakova Tag for-review tag was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.18 | ATN1_CAG | Arina Puzriakova Classified STR: ATN1_CAG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.18 | ATN1_CAG | Arina Puzriakova Added comment: Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v2.18 | ATN1_CAG | Arina Puzriakova Str: atn1_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.75 | ATN1_CAG | Louise Daugherty commented on STR: ATN1_CAG: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.75 | ATN1_CAG | Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.59 | ATN1_CAG | Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group. ; to: Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.59 | ATN1_CAG | Louise Daugherty commented on STR: ATN1_CAG: Green rating inferred from review comment on 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 | ATN1_CAG | Louise Daugherty Source NHS GMS was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.58 | ATN1_CAG | Louise Daugherty Source South West GLH was added to STR: ATN1_CAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v1.57 | ATN1_CAG |
Louise Daugherty Source London North GLH was added to STR: ATN1_CAG. Publications for STR: ATN1_CAG were changed from 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 to 20301664; 8136826; 8136840; 7614090 |
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Adult onset neurodegenerative disorder v1.13 | ATN1_CAG | Louise Daugherty edited their review of STR: ATN1_CAG: Added comment: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.77 | ATN1_CAG | Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.77 | ATN1_CAG | Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset neurodegenerative disorder v0.76 | ATN1_CAG |
Louise Daugherty STR: ATN1_CAG was added STR: ATN1_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: ATN1_CAG. Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370 Review for STR: ATN1_CAG was set to GREEN Added comment: Source PanelApp panels : Hereditary ataxia v1.150, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Brain channelopathy v1.48, Parkinson Disease and Complex Parkinsonism v1.64. Sources: Expert list |