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Dystonia, chorea or related movement disorder, adult onset v3.9 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG: The rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.
Dystonia, chorea or related movement disorder, adult onset v3.9 ATXN3_CAG Eleanor Williams Classified STR: ATXN3_CAG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v3.9 ATXN3_CAG Eleanor Williams Str: atxn3_cag has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v3.8 ATXN3_CAG Eleanor Williams Tag watchlist was removed from STR: ATXN3_CAG.
Tag Q3_23_promote_green was removed from STR: ATXN3_CAG.
Dystonia, chorea or related movement disorder, adult onset v3.4 ATXN3_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATXN3_CAG.
Dystonia, chorea or related movement disorder, adult onset v3.4 ATXN3_CAG Sarah Leigh reviewed STR: ATXN3_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dystonia, chorea or related movement disorder, adult onset v1.170 ATXN3_CAG Eleanor Williams Tag for-review was removed from STR: ATXN3_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.166 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Dystonia, chorea or related movement disorder, adult onset v1.162 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Dystonia, chorea or related movement disorder, adult onset v1.134 ATXN3_CAG Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Dystonia, chorea or related movement disorder, adult onset v1.133 ATXN3_CAG Arina Puzriakova Tag watchlist tag was added to STR: ATXN3_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.133 ATXN3 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Dystonia, chorea or related movement disorder, adult onset v1.133 ATXN3 Arina Puzriakova Mode of inheritance for gene: ATXN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Dystonia, chorea or related movement disorder, adult onset v1.132 ATXN3 Arina Puzriakova Phenotypes for gene: ATXN3 were changed from (CAGexpansion); familial parkinsonism to Machado-Joseph disease, OMIM:109150
Dystonia, chorea or related movement disorder, adult onset v1.131 ATXN3 Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: ATXN3.
Tag currently-ngs-unreportable tag was added to gene: ATXN3.
Dystonia, chorea or related movement disorder, adult onset v1.14 ATXN3_CAG Arina Puzriakova Tag for-review tag was added to STR: ATXN3_CAG.
Dystonia, chorea or related movement disorder, adult onset v1.8 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Amber List (moderate evidence)
Dystonia, chorea or related movement disorder, adult onset v1.8 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
Dystonia, chorea or related movement disorder, adult onset v0.93 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_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
Dystonia, chorea or related movement disorder, adult onset v0.87 ATXN3 Louise Daugherty edited their review of gene: ATXN3: 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 ATXN3_CAG (rated GREEN) and not the gene entity, as there are no SNVs for this gene being associated to the disorder, so this gene has been rated as RED.; Changed rating: RED
Dystonia, chorea or related movement disorder, adult onset v0.56 ATXN3_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG.
Dystonia, chorea or related movement disorder, adult onset v0.55 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_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.
Dystonia, chorea or related movement disorder, adult onset v0.55 ATXN3_CAG Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v0.50 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.49 ATXN3 Emily Jones reviewed gene: ATXN3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: (CAGexpansion), familial parkinsonism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dystonia, chorea or related movement disorder, adult onset v0.48 ATXN3 Louise Daugherty Added phenotypes (CAGexpansion); familial parkinsonism for gene: ATXN3
Dystonia, chorea or related movement disorder, adult onset v0.47 ATXN3 Louise Daugherty Source NHS GMS was added to ATXN3.
Dystonia, chorea or related movement disorder, adult onset v0.46 ATXN3 Louise Daugherty Source South West GLH was added to ATXN3.
Dystonia, chorea or related movement disorder, adult onset v0.37 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Dystonia, chorea or related movement disorder, adult onset v0.37 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Dystonia, chorea or related movement disorder, adult onset v0.36 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Adult onset movement disorder. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Dystonia, chorea or related movement disorder, adult onset v0.2 ATXN3 Ellen McDonagh gene: ATXN3 was added
gene: ATXN3 was added to Adult onset movement disorder. Sources: Expert Review Red
Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATXN3 were set to (CAGexpansion); familial parkinsonism
Mode of pathogenicity for gene: ATXN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments