Activity

Filter

Cancel
Date Panel Item Activity
26 actions
Adult onset neurodegenerative disorder v4.46 ATXN2_CAG Jemeen Sreedharan reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20740007, 21479228, 21537950, 21562247; Phenotypes: amyotrophic lateral sclerosis, spinocerebellar ataxia 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v4.28 ATXN2_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 ATXN2_CAG Sarah Leigh Tag Q3_23_promote_green was removed from STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v4.28 ATXN2_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v4.28 ATXN2_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 ATXN2_CAG Sarah Leigh reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.273 ATXN2_CAG Eleanor Williams Tag for-review was removed from STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v2.267 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Adult onset neurodegenerative disorder v2.264 ATXN2_CAG Arina Puzriakova Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32.
Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35.
Adult onset neurodegenerative disorder v2.211 ATXN2_CAG Arina Puzriakova Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Adult onset neurodegenerative disorder v2.210 ATXN2_CAG Arina Puzriakova Tag watchlist tag was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v2.23 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v2.23 ATXN2_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 v2.23 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v2.22 ATXN2_CAG Arina Puzriakova Tag for-review tag was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.75 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_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 ATXN2_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.59 ATXN2_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 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_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 ATXN2_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN2_CAG Louise Daugherty Source South West GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.13 ATXN2_CAG Louise Daugherty edited their review of STR: ATXN2_CAG: Added comment: 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.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v0.71 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.71 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.70 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list