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Adult onset dystonia, chorea or related movement disorder v3.8 ATXN2_CAG Eleanor Williams commented on STR: ATXN2_CAG
Adult onset dystonia, chorea or related movement disorder v3.8 ATXN2_CAG Eleanor Williams Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v3.8 ATXN2_CAG Eleanor Williams Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v3.7 ATXN2_CAG Eleanor Williams Tag watchlist was removed from STR: ATXN2_CAG.
Tag Q3_23_promote_green was removed from STR: ATXN2_CAG.
Adult onset dystonia, chorea or related movement disorder v3.4 ATXN2_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATXN2_CAG.
Adult onset dystonia, chorea or related movement disorder v3.4 ATXN2_CAG Sarah Leigh reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset dystonia, chorea or related movement disorder v1.170 ATXN2_CAG Eleanor Williams Tag for-review was removed from STR: ATXN2_CAG.
Adult onset dystonia, chorea or related movement disorder v1.166 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Adult onset dystonia, chorea or related movement disorder v1.162 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 dystonia, chorea or related movement disorder v1.131 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 dystonia, chorea or related movement disorder v1.130 ATXN2_CAG Arina Puzriakova Tag watchlist tag was added to STR: ATXN2_CAG.
Adult onset dystonia, chorea or related movement disorder v1.14 ATXN2_CAG Arina Puzriakova Tag for-review tag was added to STR: ATXN2_CAG.
Adult onset dystonia, chorea or related movement disorder v1.7 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Amber List (moderate evidence)
Adult onset dystonia, chorea or related movement disorder v1.7 ATXN2_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 dystonia, chorea or related movement disorder v1.7 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
Adult onset dystonia, chorea or related movement disorder v0.93 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.87 ATXN2 Louise Daugherty edited their review of gene: ATXN2: Added comment: 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 Parkinson Disease and Complex Parkinsonism panel. It relates to the STR ATXN2_CAG and not the gene entity, as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.; Changed rating: RED
Adult onset dystonia, chorea or related movement disorder v0.56 ATXN2_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG.
Adult onset dystonia, chorea or related movement disorder v0.55 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: STR rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : STR suggested by Huw and Raquel.
Adult onset dystonia, chorea or related movement disorder v0.55 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.35 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.35 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.34 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Adult onset movement disorder. 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 : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list