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Neurodegenerative disorders, adult onset v6.6 ATXN2_CAG Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from STR: ATXN2_CAG.
Tag Q2_24_NHS_review was removed from STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v6.6 ATXN2_CAG Sarah Leigh Classified STR: ATXN2_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v6.6 ATXN2_CAG Sarah Leigh Str: atxn2_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v6.5 ATXN2_CAG Sarah Leigh commented on STR: ATXN2_CAG: The rating of this entity has been updated to green following NHS Genomic Medicine Service approval.
Neurodegenerative disorders, adult onset v5.6 ATXN2_CAG Sarah Leigh Tag watchlist was removed from STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v5.6 ATXN2_CAG Sarah Leigh Tag Q2_24_promote_green tag was added to STR: ATXN2_CAG.
Tag Q2_24_NHS_review tag was added to STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v5.6 ATXN2_CAG Sarah Leigh changed review comment from: Numerous instances of ATXN2_CAG repeat expansions have been reported in the literature associated with Amyotrophic lateral sclerosis, susceptibility to, 13 (OMIM:183090)(PMID: 20740007;21479228;21537950;21562247;21610160).; to: Numerous instances of ATXN2_CAG repeat expansions have been reported in the literature associated with Amyotrophic lateral sclerosis, susceptibility to, 13 (OMIM:183090), which is an adult onset neurodegenerative disorder (PMID: 20740007;21479228;21537950;21562247;21610160).
Neurodegenerative disorders, adult onset v5.6 ATXN2_CAG Sarah Leigh edited their review of STR: ATXN2_CAG: Added comment: Numerous instances of ATXN2_CAG repeat expansions have been reported in the literature associated with Amyotrophic lateral sclerosis, susceptibility to, 13 (OMIM:183090)(PMID: 20740007;21479228;21537950;21562247;21610160).; Changed rating: GREEN
Neurodegenerative disorders, adult onset v5.6 ATXN2_CAG Sarah Leigh Publications for STR: ATXN2_CAG were set to 20740007; 21479228; 21537950; 21562247
Neurodegenerative disorders, adult onset v5.5 ATXN2_CAG Sarah Leigh Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Neurodegenerative disorders, adult onset v5.4 ATXN2_CAG Sarah Leigh Publications for STR: ATXN2_CAG were set to
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v4.28 ATXN2_CAG Sarah Leigh Tag Q3_23_promote_green was removed from STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v4.28 ATXN2_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v4.28 ATXN2_CAG Sarah Leigh reviewed STR: ATXN2_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Neurodegenerative disorders, adult onset v2.273 ATXN2_CAG Eleanor Williams Tag for-review was removed from STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v2.267 ATXN2_CAG Ivone Leong commented on STR: ATXN2_CAG
Neurodegenerative disorders, adult onset 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.
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v2.210 ATXN2_CAG Arina Puzriakova Tag watchlist tag was added to STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v2.210 ATXN2 Arina Puzriakova Mode of pathogenicity for gene: ATXN2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Neurodegenerative disorders, adult onset v2.209 ATXN2 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Neurodegenerative disorders, adult onset v2.209 ATXN2 Arina Puzriakova Mode of inheritance for gene: ATXN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Neurodegenerative disorders, adult onset v2.208 ATXN2 Arina Puzriakova Phenotypes for gene: ATXN2 were changed from Spinocerebellar ataxia 2, 183090; familial parkinsonism; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090; Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090; (CAGexpansion) to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Neurodegenerative disorders, adult onset v2.23 ATXN2_CAG Arina Puzriakova Classified STR: ATXN2_CAG as Amber List (moderate evidence)
Neurodegenerative disorders, adult onset v2.23 ATXN2_CAG Arina Puzriakova Str: atxn2_cag has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders, adult onset v2.22 ATXN2_CAG Arina Puzriakova Tag for-review tag was added to STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v1.106 ATXN2 Louise Daugherty edited their review of gene: ATXN2: 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 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.
Neurodegenerative disorders, adult onset v1.75 ATXN2_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v1.74 ATXN2 Louise Daugherty commented on gene: ATXN2: 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 ATXN2 Nick Beauchamp reviewed gene: ATXN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.67 ATXN2 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN2.
Neurodegenerative disorders, adult onset 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.
Neurodegenerative disorders, adult onset v1.59 ATXN2_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v1.58 ATXN2_CAG Louise Daugherty Source South West GLH was added to STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset v1.57 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.7 ATXN2 Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.6 ATXN2 Anthony Dallosso reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 2, 183090, familial parkinsonism, {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090, Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.5 ATXN2 Louise Daugherty Source NHS GMS was added to ATXN2.
Neurodegenerative disorders, adult onset v1.4 ATXN2 Louise Daugherty Source South West GLH was added to ATXN2.
Neurodegenerative disorders, adult onset v0.71 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v0.71 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v0.2 ATXN2 Rebecca Foulger Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Neurodegenerative disorders, adult onset v0.2 ATXN2 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN2.
Neurodegenerative disorders, adult onset v0.2 ATXN2 Rebecca Foulger Added phenotypes Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090 for gene: ATXN2
Neurodegenerative disorders, adult onset v0.2 ATXN2 Rebecca Foulger Added phenotypes familial parkinsonism; (CAGexpansion) for gene: ATXN2
Neurodegenerative disorders, adult onset v0.2 ATXN2 Rebecca Foulger gene: ATXN2 was added
gene: ATXN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATXN2 were set to 24488689
Phenotypes for gene: ATXN2 were set to Spinocerebellar ataxia 2, 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090