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Neurodegenerative disorders, adult onset v4.28 ATXN3_CAG Sarah Leigh Tag Q3_23_promote_green was removed from STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v4.28 ATXN3_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v4.28 ATXN3_CAG Sarah Leigh reviewed STR: ATXN3_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Neurodegenerative disorders, adult onset v2.273 ATXN3_CAG Eleanor Williams Tag for-review was removed from STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v2.267 ATXN3_CAG Eleanor Williams commented on STR: ATXN3_CAG
Neurodegenerative disorders, adult onset v2.264 ATXN3_CAG Arina Puzriakova Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45.
Neurodegenerative disorders, adult onset v2.214 ATXN3_CAG Arina Puzriakova Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Neurodegenerative disorders, adult onset v2.213 ATXN3_CAG Arina Puzriakova Tag watchlist tag was added to STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v2.213 ATXN3 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Neurodegenerative disorders, adult onset v2.213 ATXN3 Arina Puzriakova Mode of inheritance for gene: ATXN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Neurodegenerative disorders, adult onset v2.212 ATXN3 Arina Puzriakova Phenotypes for gene: ATXN3 were changed from familial parkinsonism; (CAGexpansion) to Machado-Joseph disease, OMIM:109150; Susceptibility to Late-Onset Parkinson Disease
Neurodegenerative disorders, adult onset v2.24 ATXN3_CAG Arina Puzriakova Classified STR: ATXN3_CAG as Amber List (moderate evidence)
Neurodegenerative disorders, adult onset v2.24 ATXN3_CAG Arina Puzriakova Str: atxn3_cag has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders, adult onset v2.23 ATXN3_CAG Arina Puzriakova Tag for-review tag was added to STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v1.106 ATXN3 Louise Daugherty edited their review of gene: ATXN3: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Neurodegenerative disorders, adult onset v1.75 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_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.
Neurodegenerative disorders, adult onset v1.75 ATXN3_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v1.74 ATXN3 Louise Daugherty commented on gene: ATXN3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders, adult onset v1.72 ATXN3 Nick Beauchamp reviewed gene: ATXN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: familial parkinsonism, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.67 ATXN3 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN3.
Neurodegenerative disorders, adult onset v1.59 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_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.
Neurodegenerative disorders, adult onset v1.59 ATXN3_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v1.58 ATXN3_CAG Louise Daugherty Source South West GLH was added to STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v1.57 ATXN3_CAG Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG.
Neurodegenerative disorders, adult onset v1.13 ATXN3_CAG Louise Daugherty edited their review of STR: ATXN3_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
Neurodegenerative disorders, adult onset v1.7 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.6 ATXN3 Anthony Dallosso reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: familial parkinsonism, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.5 ATXN3 Louise Daugherty Source NHS GMS was added to ATXN3.
Neurodegenerative disorders, adult onset v1.4 ATXN3 Louise Daugherty Source South West GLH was added to ATXN3.
Neurodegenerative disorders, adult onset v0.66 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v0.66 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v0.65 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Neurodegenerative disorders - adult onset. 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: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143.
Sources: Expert list
Neurodegenerative disorders, adult onset v0.2 ATXN3 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN3.
Tag currently-ngs-unreportable tag was added to gene: ATXN3.
Neurodegenerative disorders, adult onset v0.2 ATXN3 Rebecca Foulger Added phenotypes familial parkinsonism; (CAGexpansion) for gene: ATXN3
Neurodegenerative disorders, adult onset v0.2 ATXN3 Rebecca Foulger gene: ATXN3 was added
gene: ATXN3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown