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Adult onset neurodegenerative disorder v8.1 CACNA1A_CAG Sarah Leigh Tag Q2_25_expert_review tag was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v7.24 CACNA1A_CAG Sarah Leigh Tag watchlist was removed from STR: CACNA1A_CAG.
Tag Q2_25_ promote_green tag was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v7.24 CACNA1A_CAG Sarah Leigh Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6, OMIM:183086 to Spinocerebellar ataxia 6, OMIM:183086; spinocerebellar ataxia type 6, MONDO:0008457
Adult onset neurodegenerative disorder v7.23 CACNA1A_CAG Sarah Leigh Publications for STR: CACNA1A_CAG were set to
Adult onset neurodegenerative disorder v7.22 CACNA1A_CAG Sarah Leigh changed review comment from: There are numerous reports of CACNA1A_CAG repeat expansions in cases of Spinocerebellar ataxia 6 (OMIM: 183086)(PMID: 18285829;19817876;16595610;8988170). The age of onset of OMIM: 183086 is typically 20-65 years.; to: There are numerous reports of CACNA1A_CAG repeat expansions in cases of Spinocerebellar ataxia 6 (OMIM: 183086)(PMID: 18285829;19817876;16595610;8988170). The age of onset of OMIM: 183086 is typically 20-65 years (PMID: 9311738).
Adult onset neurodegenerative disorder v7.22 CACNA1A_CAG Sarah Leigh reviewed STR: CACNA1A_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v4.28 CACNA1A_CAG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 CACNA1A_CAG Sarah Leigh Tag Q3_23_promote_green was removed from STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v4.28 CACNA1A_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v4.28 CACNA1A_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 CACNA1A_CAG Sarah Leigh reviewed STR: CACNA1A_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.273 CACNA1A_CAG Eleanor Williams Tag for-review was removed from STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v2.268 CACNA1A_CAG Louise Daugherty reviewed STR: CACNA1A_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.267 CACNA1A_CAG Eleanor Williams commented on STR: CACNA1A_CAG
Adult onset neurodegenerative disorder v2.264 CACNA1A_CAG Arina Puzriakova Normal Number of Repeats for CACNA1A_CAG was changed from 18 to 19.
Source NHS GMS was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v2.221 CACNA1A_CAG Arina Puzriakova Phenotypes for STR: CACNA1A_CAG were changed from Spinocerebellar ataxia 6 183086 to Spinocerebellar ataxia 6, OMIM:183086
Adult onset neurodegenerative disorder v2.220 CACNA1A_CAG Arina Puzriakova Tag watchlist tag was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v2.26 CACNA1A_CAG Arina Puzriakova Classified STR: CACNA1A_CAG as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v2.26 CACNA1A_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 v2.26 CACNA1A_CAG Arina Puzriakova Str: cacna1a_cag has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v2.25 CACNA1A_CAG Arina Puzriakova Tag for-review tag was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v1.75 CACNA1A_CAG Louise Daugherty edited their review of STR: CACNA1A_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. Comment: Age of onset 20-65 years; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 CACNA1A_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v0.54 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.54 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.53 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Brain channelopathy v1.46, Hereditary spastic paraplegia v1.141.
Sources: Expert list